Table 1: Summary of differential breakpoints in the merged callset.
Variants in unique regions (No TR/SD) have the fewest breakpoint offsets, which grows as SVs in more complex loci are included. TR: Tandem Repeat, SD: Segmental Duplication, N: Number of variants, Diff: Variants with different offsets in at least one haplotype, Med: Median breakpoint offset.
Insertions | Deletions | |||||||
---|---|---|---|---|---|---|---|---|
N | Diff | Diff % | Med bp | N | Diff | Diff % | Med bp | |
No TR/SD | 14,961 | 882 | 5.9% | 2.2 | 5,804 | 180 | 3.1% | 4.9 |
SD No TR | 2,609 | 440 | 16.9% | 3.5 | 1,922 | 402 | 20.9% | 5.0 |
All | 60,716 | 19,589 | 32.3% | 19.4 | 38,442 | 10,641 | 27.7% | 22.0 |