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Published 20 hours ago • verified publisher icon fritzsedlazeck

false genotyping large deletion

Open DHmeduni opened this issue 6 months ago • 10 comments

Hi, I have a 62kb deletion that is very obviously heterzygous but sniffles is calling it as homozygous even the coverage field its's obvious its heterozygous..... anybody have an idea what to do, or is this a bug?

chr7 148238576 Sniffles2.DEL.4A5S6 N <DEL> 60 PASS PRECISE;SVTYPE=DEL;SVLEN=-62659;END=148301235;SUPPORT=83;COVERAGE=154,75,57,79,157;STRAND=+-;AF=1.000;STDEV_LEN=0.000;STDEV_POS=0.000 GT:GQ:DR:DV 1/1:60:0:83

DHmeduni avatar Aug 13 '24 15:08 DHmeduni