From: Assembly and annotation of an Ashkenazi human reference genome
Variant type | Number of coding sequences |
---|---|
Identical | 92,600 |
Mis-sense variant | 26,566 |
In-frame deletion | 956 |
In-frame insertion | 605 |
Frameshift variant | 2158 |
Start lost | 169 |
Stop gained | 416 |
Stop lost | 58 |
Truncated | 564 |
Unmapped | 138 |
Total | 124,230 |