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We use SVLEN as a way to enforce variant uniqueness
VCF format 4.4 SVLEN changes to be "length of structural variant" and becomes positive.
However, in 4.3 and earlier, SVLEN can be negative for DELs
A recently uploaded T2T VCF sorted_toref had positive SVLEN values for <DEL> variants. It had VCFv2
<DEL>
If you search for <DEL> on this page:
https://github.com/Illumina/manta/blob/master/docs/userGuide/README.md
You can see they are violating the specs
11 94975753 MantaDEL:0:1:2:0:0:0 T <DEL> . PASS END=94987865;SVTYPE=DEL;SVLEN=12112;IMPRECISE;CIPOS=-156,156;CIEND=-150,150 PR 161,13
Manta have archived their repo as read only and are no longer accepting bugs.
We should decide how to go for our DB - whether to stay in the new or old format.
Nobody really accepts the newer VCF format so we'd have to modify things eg for VEP or exporting etc
The text was updated successfully, but these errors were encountered:
#1245 - Manta SV <DEL> with positive SVLEN
09a4bca
bef976c
There were 7,824,469 variants, though we rmdup now
Todo: check if it works and delete del with positive svlen
Sorry, something went wrong.
Testing:
This should have no visible effect on Shariant, just standard VCF related things (imports, liftover) etc stil work
Will make a test case...
davmlaw
No branches or pull requests
We use SVLEN as a way to enforce variant uniqueness
VCF format 4.4 SVLEN changes to be "length of structural variant" and becomes positive.
However, in 4.3 and earlier, SVLEN can be negative for DELs
A recently uploaded T2T VCF sorted_toref had positive SVLEN values for
<DEL>
variants. It had VCFv2If you search for
<DEL>
on this page:https://github.com/Illumina/manta/blob/master/docs/userGuide/README.md
You can see they are violating the specs
Manta have archived their repo as read only and are no longer accepting bugs.
We should decide how to go for our DB - whether to stay in the new or old format.
Nobody really accepts the newer VCF format so we'd have to modify things eg for VEP or exporting etc
The text was updated successfully, but these errors were encountered: