You might want to take a look at the concluding part of this thread… that I started a while ago, in a related issue. It seems that such entries might represent triplications, rather than dups.
Related topics
| Topic | Replies | Views | Activity | |
|---|---|---|---|---|
| GnomAD SVs v4 - discrepancy between hemizygote & male (XY) counts | 15 | 448 | April 6, 2026 | |
| Structural variants | 1 | 45 | May 4, 2026 | |
| Genotype quality for assessing CNV in gnomAD SV v4? | 1 | 225 | July 22, 2024 | |
| Pathogenic variants observed with a too high number of homozygous individuals | 1 | 655 | March 17, 2024 | |
| GnomAD SVs v4, X-chromosome: homozygous males | 1 | 134 | November 5, 2024 |