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. 2025 Oct 23;57:61. doi: 10.1186/s12711-025-01012-x

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)