Table 4.
Size distribution of pathogenic copy number variations (CNVs) and variants of unknown clinical significance (VOUS) found in patients
| Size of imbalance | No. (%) pathogenic CNVs | No. (%) of VOUS |
|---|---|---|
| >10 Mb | 7 (13.7) | 0 |
| 5-10 Mb | 7 (13.7) | 0 |
| 1-5 Mb | 16 (31.4) | 7 (16.7) |
| 1 Mb-500 kb | 8 (15.7) | 9 (21.4) |
| 500-300 kb | 2 (3.9) | 9 (21.4) |
| <300 kb | 11 (21.6) | 17 (40.5) |
| Total | 51 (100.0) | 42 (100.0) |