Table 2.
Inversion breakpoint coordinates on the reference assembly for chromosomes 6, 12, 17, and 23
| Inversion | Samples | Proximal breakpoint | Distal breakpoint | Shift from the consensus breakpoint in bp (proximal/distal) |
|---|---|---|---|---|
| Chromosome 6a,b | CS2 | 22,282,765 | 25,427,801 | -/559,219 |
| CS4 | 22,282,765 | 24,869,682 | -/1100 | |
| CS7 | 22,282,765 | 24,869,682 | -/1100 | |
| CS10 | 22,282,765 | 24,869,682 | -/1100 | |
| Chromosome 12 | BS1 | 17,826,318 | 25,603,093 | -/- |
| BS2 | 17,826,318 | 25,603,093 | -/- | |
| BS3 | 17,826,318 | 25,603,093 | -/- | |
| BS4 | 17,826,318 | 25,603,093 | -/- | |
| BS5 | 17,826,318 | 25,603,093 | -/- | |
| BS6 | 17,826,318 | 25,603,093 | -/- | |
| Chromosome 17a | CS2 | 25,802,209 | 27,568,510 | -/- |
| CS4 | 25,802,209 | 27,568,510 | -/- | |
| CS5 | 25,802,212 | 27,568,510 | 3/- | |
| CS7 | 25,802,212 | 27,568,510 | 3/- | |
| CS8 | 25,802,209 | 27,568,510 | -/- | |
| CS10 | 25,802,209 | 27,568,510 | -/- | |
| Chromosome 23 | BS1 | 16,225,343 | 17,604,279 | -/- |
| BS2 | 16,216,922 | 17,604,291 | 8421/12 | |
| BS3 | 16,225,343 | 17,604,291 | -/12 | |
| BS4 | 16,225,343 | 17,604,279 | -/- | |
| BS5 | 16,225,343 | 17,604,277 | -/2 | |
| BS6 | 16,226,443 | 17,603,173 | 1100/1106 |
The last column presents shift from the consensus breakpoints, which are Chr6:22,282,765-24,868,582, Chr12:17,826,318-25,603,093, Chr17:25,802,2019-27,568,510, Chr23:16,225,343-17,604,279.
aChromosome 6 and 17 breakpoints show 1–3 kb shifts from the previously reported breakpoints31.
bThe samples with ID CS5 and CS8 had no aligned reads spanning the breakpoints of chromosome 6 inversion because the reference sequence at the breakpoint had gaps, SVs, and misassembled sequence.