[chr7:361414-35959032][BND][JoinedTo=chr7:35959031]]

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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[chr7:361414-35959032][BND][JoinedTo=chr7:35959031]] #198

Open jzook opened 1 month ago

jzook commented 1 month ago

chr7 361414 Minda_128 N N]chr7:35959031] . PASS SVLEN=35597617;SVTYPE=BND;SUPP_VEC=ONT_severus_INV7498,PB_ID_26891_2,PB_r_310_1,ONT_r_203_1,ILL_MantaBND:2:38236:38237:0:0:0:1,ONT_ID_41850_2,PB_severus_INV6510,PB_Sniffles2.INV.76M6,ONT_Sniffles2.INV.28M6

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr7:361414#ribbon

aysegokce commented 1 month ago

It looks like an inverted duplication. The other side is mentioned above. Help needed to determine the exact breakpoint: