Table 1.
Results from filtering known disease-associated SVs using SV calls from 1KGP.
| Number | Gene | SV type (type or length) | Beginning SV Count | SVs remaining after filtering | Remaining SVs in genic regions | Filtering Result |
|---|---|---|---|---|---|---|
| Targeted long-read sequencing | ||||||
| 1 | ALMS1 | Insertion (Alu)a | N/A | N/A | N/A | Present |
| 2 | HPS1 | Deletion (1.9 kbp)a | N/A | N/A | N/A | Present |
| 3 | AGL | Deletion (1.5 kbp)a | N/A | N/A | N/A | Present |
| 4 | HYDIN | Deletion (1.7 kbp)c | N/A | N/A | N/A | Present |
| 5 | HYDIN | Deletion (10 kbp)c | N/A | N/A | N/A | Present |
| 6 | Multiple | Duplication (2 Mbp)b | N/A | N/A | N/A | Present |
| 7 | TP53 | Insertion (300 bp)c | N/A | N/A | N/A | Present |
| 8 | HPRT1 | Inversion (17 Mbp)a | N/A | N/A | N/A | Present |
| Whole-genome long-read sequencing | ||||||
| 1 | NSD1 | Insertion (110 bp)c | 18422 | 1584 | 685 | Present |
| 2 | FGA | Deletion (4.1 kbp)c | 22834 | 1999 | 269 | Present |
| 3 | FANCD2 | Deletion (410 bp)c | 22933 | 1503 | 327 | Present |
| 4 | ABCD1 | Insertion (2.8 kbp)c | 23216 | 1757 | 557 | Present |
| 5 | DBT | Deletion (3 kbp)c | 23800 | 3194 | 1361 | Present |
| 6 | AGRN | Deletion (2.3 kbp)c | 23346 | 419 | 171 | Present |
| 7 | COL5A1 | Inversion (1.5 Mbp)c | 24361 | 2038 | 417 | Present |
| 8 | AGL | Insertion (Alu)c | 23033 | 820 | 259 | Present |