[chr16:72462758-72553789][DUP][SVLEN=91031bp]

jzook / testHG008curation

This repository is primarily for the Genome in a Bottle Consortium to curate structural variants in HG008

https://www.nist.gov/programs-projects/cancer-genome-bottle

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[chr16:72462758-72553789][DUP][SVLEN=91031bp] #262

Open jzook opened 1 month ago

jzook commented 1 month ago

chr16 72462758 Minda_50 N <DUP> . PASS SVLEN=91031;SVTYPE=DUP;SUPP_VEC=ILL_MantaDUP:TANDEM:228574:0:1:0:0:0,ILL_gridss247bf_2832h,PB_severus_DUP2522,ONT_severus_DUP2820,PB_r_162,ONT_r_100,ILL_84087518:2,PB_ID_30300_2,PB_Sniffles2.DUP.215MF,ONT_ID_64013_2,ONT_Sniffles2.DUP.209MF

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr16:72462758#ribbon

aysegokce commented 1 month ago

Looks real. Duplication leads to an increase in CN. Likely clonal.