[chr22:44252043-44418342][DUP][SVLEN=166299bp]

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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[chr22:44252043-44418342][DUP][SVLEN=166299bp] #292

Open jzook opened 1 month ago

jzook commented 1 month ago

chr22 44252043 Minda_92 N <DUP> . PASS SVLEN=166299;SVTYPE=DUP;SUPP_VEC=PB_severus_DUP4482,PB_ID_55301_2,PB_r_249,ONT_severus_BND5202_2,ONT_r_157,ILL_MantaDUP:TANDEM:260750:0:1:0:0:0,ONT_ID_65406_2,ILL_2238840197:2,ILL_gridss287bf_428h,PB_Sniffles2.DUP.18AM15,ONT_Sniffles2.DUP.1A3M15

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr22:44252043#ribbon

vkpat commented 1 month ago

appears to be exact breakpoint and tandem duplication which could be conal --present in all cells

duplications increase from 100 --->250 seen in Genome ribbon

In the IGV shows that the left breakpoint appears to be in SHISAl gene