Table 1. Number and percentage of cases who are carriers of specific CNV types among AGP rare, genic CNV carriers.
Gene list | CNV type | Number (%) |
---|---|---|
Any gene | Deletion | 988 (62.14) |
Duplication | 1147 (72.14) | |
De Novo | 106 (7.74) | |
Inherited | 1339 (97.81) | |
ASD/ID gene | Any CNV | 105 (6.6) |
Deletion | 51 (3.21) | |
Duplication | 57 (3.58) | |
De Novo | 21 (1.53) | |
Inherited | 73 (5.33) | |
DBE gene | Any CNV | 816 (51.32) |
Deletion | 425 (26.73) | |
Duplication | 489 (30.75) | |
De Novo | 65 (4.75) | |
Inherited | 669 (48.87) |
Abbreviations: ASD/ID, Autism Spectrum Disorder or Intellectual Disability; AGP, Autism Genome Project; CNV, copy number variation; DBE, differentially brain expressed.
Deletions and duplications are not mutually exclusive categories.