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Variant DEL-grch37-5-150175225-150181898 exonic, but overlaps 3'utr only

Open xiamaz opened this issue 1 year ago • 2 comments

Describe the bug The Variant DEL-grch37-5-150175225-150181898 overlaps 3'utr instead of coding sequence. This should be clearly reflected in the consequence annotation.

To Reproduce TBD

Expected behavior

xiamaz avatar Apr 11 '24 14:04 xiamaz

In the best case coding and 3' should be separated, since these are relevant for CNV classification.

xiamaz avatar Apr 11 '24 14:04 xiamaz

Seqvars mehari has separation of UTR exonic/intronic, needs to be ported to SVs.

holtgrewe avatar Aug 07 '24 13:08 holtgrewe