[chr12:121442785-121442785][BND][JoinedTo=hr15:40450790]N]

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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[chr12:121442785-121442785][BND][JoinedTo=hr15:40450790]N] #244

Open jzook opened 1 month ago

jzook commented 1 month ago

chr12 121442785 Minda_32 N ]chr15:40450790]N . PASS SVLEN=-1;SVTYPE=BND;SUPP_VEC=PB_severus_BND2201_1,ONT_severus_BND2461_1,PB_Sniffles2.BND.2F3MB,ONT_Sniffles2.BND.308MB,PB_r_79_1,ONT_r_70_1,ILL_MantaBND:198369:0:1:0:0:0:0,PB_ID_56865_2,ONT_ID_19782_2,ILL_3104045034:2,ILL_gridss206fb_10951h

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr12:121442785#ribbon

d-cameron commented 1 month ago

Part of a balanced interchromosomal translocation between chr12 & chr15.

4bp GAGG microhomology on one breakpoints
Likely driver variant as it disrupts KDM2B tumor suppressor gene

d-cameron commented 1 month ago

Base-pair accurate call coordinates are:

chr12   121442781   Minda_32    C   ]chr15:40450789]GC