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| Variant type | Deletion/insertion size | Total (unique) number of variants | |
|---|---|---|---|
| Reference data | Orthogonal confirmation | ||
| SNV | 5,182 (425) | ||
| Indel | Indels ≤10 bp | 57 (29) | |
| Indels >10 bp | 19 (15) | ||
| Alu insertion | 7 (4) | ||
| CNV | Single-exon deletions or duplications | 3 (3) | 10 (9) |
| Multiple exon deletions or duplications | 2 (2) | 35 (27) | |
