Table 1

Frequency of pathogenic CNVs identified in this study

Cytogenetic location of CNVsDe novo lossDe novo gainInherited lossInherited gainTotal
16p11.2122181749
1q21.1q21.251132140
22q11.213023035
15q13.2q13.30027128
15q11.2q13.11121620
16p13.11308718
17q12421815
7q11.23741113
16p12.21012013
17p12106411
15q13.300819
17p11.253019
3q2930058
2p16.330407
17p13.323106
22q13.3350106
21q11.2q22.304004
4p16.310203
6q2720103
9p24.3p2330003
16p13.11p12.310203
20p1310113
22q11.21q11.2230003
22q11.23q13.3303003
2q37.1q37.311002
5q14.320002
6p25.3p25.210102
7p22.120002
8p23.110012
9p24.2p2310102
9p24.3p13.102002
10q26.2q26.320002
10q26.310102
11q24.2q2520002
13q12.3q13.120002
15q11.1q13.111002
16p13.310102
17q21.3120002
18p11.32p11.2102002
18p11.32p11.3100112
22q11.1q11.2102002
Other CNVs with single instance only7128235127
  • Pathogenic CNVs identified in this study are listed in the descending order of their total frequencies in our cohort. Note that the individual CNVs grouped to generate frequencies have been grouped according to their chromosomal location and may include overlapping CNVs with different breakpoints. Only chromosomal locations with at least two CNVs in the study have been individually listed here. Full details of all the CNVs and their specific locations are provided in online supplementary table S1.