manta icon indicating copy to clipboard operation
manta copied to clipboard

Missing mutation in DiploidSV

Open rohandavidg opened this issue 4 years ago • 0 comments

image

Hi,

I have an SV that is not being called in the diploidSV.vcf but its seen in the candidateSV, it seems to be failing the diploid model. Any idea why this is so?

#CHROM POS ID REF ALT QUAL FILTER INFO chr1 170521393 MantaDUP:TANDEM:0:0:0:2:1:0 A DUP:TANDEM . . END=170521468;SVTYPE=DUP;SVLEN=75;CIPOS=0,1;CIEND=0,1;HOMLEN=1;HOMSEQ=A;UPSTREAM_PAIR_COUNT=0;DOWNSTREAM_PAIR_COUNT=0;PAIR_COUNT=0

Thanks, Rohan

rohandavidg avatar Apr 22 '20 17:04 rohandavidg