Open davmlaw opened 1 month ago
VEP Variant class - indel = A sequence alteration which included an insertion and a deletion, affecting 2 or more bases.
I originally wrote the SV pipeline to only be symbolic variants, but we also put very long non-symbolic variants through it, so I suspect it is one of those. To find out what variant this is, we could run:
zgrep "indel" /data/annotation/test_annotation_scratch/dump_13811_structural_variant.vep_annotated_GRCh37.vcf.gz
The qustion is - for long non-symbolic indels, do we want to look at their overlap with gnomadSV?
For a delisn, you could either regard neither a del nor an ins as the same type, or both a del and an ins.
I think we'll go with both, and let the user decide whether to care, can always remove it later
Not really user testable - basically doesn't crash
Re-opening for Shariant testing This was a bug with annotations introduced 2024-08-07 in dev, never made it to prod. Should be testable by importing an indel c.HGVS with many changes bases. (Should be tested as part of a larger variant resolution task)
View details in Rollbar: https://app.rollbar.com/a/jimmy.andrews/fix/item/VariantGrid/5326