Variable | Patients with pathogenic CNVs | Patients with benign CNVs | Patients with unknown CNVs |
---|---|---|---|
N = 27 | N = 12 | N = 2 | |
Type | |||
Deletion | 21 (77.8%) | 2 (16.7%) | |
Duplication | 3 (11.1%) | 9 (75.0%) | 2 (100%) |
Duplication and deletion | 3 (11.1%) | 1 (8.3%) | |
No. CNVs | |||
1 | 22 | 8 | 2 |
≥2 | 5 | 4 | |
Size | |||
≤0.5 Mb | 6 (50%) | 2 (100%) | |
>0.5 Mb | 27 (100%) | 6 (50%) | |
Inheritance | |||
De novo | 21 (77.8%) | 1 (8.3%) | |
Familial | 5 (18.5%) | 7 (58.3%) | 2 (100%) |
Unknown | 1 (3.7%) | 4 (33.3) |