Table 6.
Distribution of SVs by allele count and SV type
| Mutations | Bi-allelic count | Multi-allelic count | Total | |
|---|---|---|---|---|
| Insertions | 27,171 | 21,840* | 1997 | 29,168 |
| 5331** | ||||
| Deletions | 24,592 | 21,340* | 3435 | 28,027 |
| 3252** | ||||
| Others mutations*** | 32,849 | 19,231 | 52,080 | |
| Total | 84,612 | 24,663 | 109,275 | |
*Alternative/reference allele length = 0; ** alternative/reference allele length comprised between 1 and 5; ***Others mutations corresponded to inversions, duplications, alternate insertions (both reference and non-reference sequences were present but non-reference allele is longer) and alternate deletions (same as for insertions, but non-reference allele is shorter)