CNVs identified in more than one unrelated individual
| CNV event | CNV type | Individuals (n) | |||
| Total | Gene panel NGS, n=550 | WGS (Illumina) n=605 | WGS (Complete Genomics) n=77 | ||
| CLN3 ex8-9 | Del | 6 | 1 | 5 | 0 |
| MERTK ex1-7 | Del | 3 | 1 | 1 | 1 |
| NPHP1 (whole gene) | Del/Dup | 7/10 | 1/3 | 5/6 | 1/1 |
| RP9/BBS9 | Dup | 5 | 1 | 4 | 0 |
| CNGB3 ex9-10 | Del | 4 | 1 | 3* | 0 |
| CYP4V2 (whole gene) | Dup | 5 | 1 | 4 | 0 |
*Indicated, but unconfirmed, as CNGB3 ex7-10 for two individuals, and CNGB3 ex8-10 for one individual using the Canvas read-depth algorithm.
Del, deletions; dup, duplications; NGS, next-generation sequencing; WGS, whole genome sequencing.