Autism - Copy Number Variations in Autism

Recurrent CNVs associated with autism identified in multiple studies

CNV Locus Cohort Id Cohort Size Cohort Geographic Ancestry
1p31.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
1p33 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
1p34.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
1p36.13 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
1p36.33 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
1p36.33-p36.22 Girirajan et al, 2012 32587
1q21.1 Kaminsky et al, 2011 15749 NA
1q21.1 Girirajan et al, 2012 32587
1q21.1 Girirajan et al, 2013a 31518 NA
1q21.1 Nguyen et al, 2013 57365 N/A
1q44 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
1q44 Girirajan et al, 2011 336
1q44 Girirajan et al, 2013b 243 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
2p12 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2p16.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2p16.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2p16.3 Dabell et al, 2013 30065 N/A
2p21 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2p22.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2p22.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2q14.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2q32.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2q37.3 Kaminsky et al, 2011 15749 NA
3p11.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
3p26.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
3p26.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
3q21.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
3q26.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
3q26.31 Glessner et al, 2009 859 European
3q26.31 Glessner et al, 2009 1336 European
3q26.31 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
3q29 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
3q29 Girirajan et al, 2011 336
4p13 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
4q12 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
4q13.2 Girirajan et al, 2011 336
4q13.2 Girirajan et al, 2013b 243 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
4q31.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
4q32.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
5p13.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
5p14.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
5p15.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
5p15.33 Girirajan et al, 2011 336
5p15.33 Girirajan et al, 2013b 243 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
5q21.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
5q22.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
5q31.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
5q33.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
5q35.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
6p12.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
6p21.32 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
6p25.3 Kaminsky et al, 2011 15749 NA
6q12 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
6q14.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
6q21 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
6q22.31 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
6q27 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
7p12.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
7p15.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
7p21.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
7p21.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
7p22.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
7q11.22 Beunders et al, 2013 49684 NA
7q11.23 Kaminsky et al, 2011 15749 NA
7q11.23 Girirajan et al, 2012 32587
7q11.23 Mulle et al, 2013 13833 Mixed
7q31.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
7q31.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
7q34 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
8p21.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
8p22 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
8p23.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
8p23.1 Kaminsky et al, 2011 15749 NA
8p23.1 Girirajan et al, 2012 32587
8p23.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
8q11.22 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
8q21.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
8q24.23 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
9p21.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
9p23 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
9p24.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
9p24.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
9q32 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
9q33.1 Lionel et al, 2013 89985 N/A
9q34.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
10p11.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
10q11.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
10q11.22 Girirajan et al, 2011 336
10q11.22 Girirajan et al, 2013b 243 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
10q21.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
10q21.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
10q23.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
11p11.12 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
11p12 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
11p15.4 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
11q11 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
11q11 Girirajan et al, 2011 336
11q11 Girirajan et al, 2013b 243 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
11q14.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
11q22.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
12p11.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
12p11.21 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
12p13.31 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
12p13.33 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
12q11 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
12q24.32 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
13q31.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
14q11.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
14q21.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
14q31.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
15q11.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
15q11.2 Girirajan et al, 2011 336
15q11.2 Girirajan et al, 2012 32587
15q11.2 Girirajan et al, 2013b 243 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
15q11.2-q13.1 Kaminsky et al, 2011 15749 NA
15q11.2-q13.1 Girirajan et al, 2012 32587
15q13.2-q13.3 Kaminsky et al, 2011 15749 NA
15q13.2-q13.3 Girirajan et al, 2012 32587
15q13.2-q13.3 Girirajan et al, 2013a 31518 NA
15q13.3 Girirajan et al, 2012 32587
15q21.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
15q25.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
15q26.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
16p11.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
16p11.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
16p11.2 Kaminsky et al, 2011 15749 NA
16p11.2 Girirajan et al, 2011 336
16p11.2 Girirajan et al, 2012 32587
16p11.2 Girirajan et al, 2013a 31518 NA
16p12.1 Girirajan et al, 2012 32587
16p13.11 Kaminsky et al, 2011 15749 NA
16p13.11 Girirajan et al, 2012 32587
16p13.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
16q23.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
17p11.2 Girirajan et al, 2012 32587
17p12 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
17p13.3 Girirajan et al, 2012 32587
17p13.3 Nguyen et al, 2013 57365 N/A
17q12 Kaminsky et al, 2011 15749 NA
17q12 Girirajan et al, 2012 32587
17q21.31 Girirajan et al, 2012 32587
18q22.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
19q13.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
20p11.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
20p12.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
21p11.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
21q21.1 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
21q21.2 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
21q22.3 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
22q11.21 Sanders et al, 2011 1124 White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
22q11.21 Kaminsky et al, 2011 15749 NA
22q11.21 Girirajan et al, 2012 32587
22q11.21 Girirajan et al, 2013a 31518 NA
22q11.21-q11.23 Girirajan et al, 2012 32587
22q13.2-q13.33 Girirajan et al, 2012 32587

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