Some structural variants in gnomAD SVs v4.1.0 such as DUP_CHR8_77D3CCE7, DUP_CHR8_0DFC84AB, and DUP_CHR8_5D05B234 show detectable allele counts in the population data. However, the database also indicates homozygous individuals for the variants at an unexpectedly high frequency. Is there any proof of the homozygosity in the individuals with homozygous variants? Is the homozygosity assumed by the read depth only?
Related topics
| Topic | Replies | Views | Activity | |
|---|---|---|---|---|
| Pathogenic variants observed with a too high number of homozygous individuals | 1 | 519 | March 17, 2024 | |
| GnomAD SVs v4, X-chromosome: homozygous males | 1 | 74 | November 5, 2024 | |
| Variant's authenticity in the V4 dataset | 2 | 385 | March 12, 2024 | |
| GnomAD SVs v4 - discrepancy between hemizygote & male (XY) counts | 7 | 234 | November 5, 2024 | |
| Genotype quality for assessing CNV in gnomAD SV v4? | 1 | 173 | July 22, 2024 |