simple question about insertion standards in vcf 4.2
1
0
Entering edit mode
4.7 years ago
curious ▴ 820

I am having a bit of a hard time understanding why the insertion example in #3 in 5.1.1 (link below) has a TC for REF. Why would it not just be C or the base before the event and then ALT just be CA? What am I missing here? Thank you!

https://imgur.com/a/R3ck2f5

vcf specificaiton • 743 views
ADD COMMENT
0
Entering edit mode

This looks like a multi-allelic entry (like chrchang says) that was split but not subjected to left alignment + parsimony.

ADD REPLY
1
Entering edit mode
4.7 years ago

I don't think you're missing anything; the REF=TC choice only makes sense if the deletion and insertion are being reported in the same variant (REF=TC, ALT=T,TCA), and the specification makes no mention of that.

Feel free to create an issue at https://github.com/samtools/hts-specs/issues .

ADD COMMENT
0
Entering edit mode

Thanks! I did wonder if it was a mistake

ADD REPLY

Login before adding your answer.

Traffic: 1875 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6