[chr6:99729725-99878020][DUP][SVLEN=148295bp]

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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[chr6:99729725-99878020][DUP][SVLEN=148295bp] #194

Open jzook opened 1 month ago

jzook commented 1 month ago

chr6 99729725 Minda_124 N <DUP> . PASS SVLEN=148295;SVTYPE=DUP;SUPP_VEC=ILL_MantaDUP:TANDEM:118593:0:1:0:0:0,ILL_gridss116bf_1864h,PB_severus_DUP6270,ONT_severus_DUP7227,PB_r_300,ONT_ID_67259_2,ONT_r_198,ILL_3955356910:2,PB_ID_42859_2,PB_Sniffles2.DUP.2C6M5,ONT_Sniffles2.DUP.2F5M5

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr6:99729725#ribbon

jzook commented 1 month ago

Likely tandem dup in all cells in LOH region with exact breakpoints