[chr4:112897566-112898795][INS][SVLEN=1229bp]

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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[chr4:112897566-112898795][INS][SVLEN=1229bp] #175

Open jzook opened 2 months ago

jzook commented 2 months ago

chr4 112897566 Minda_105 N <INS> . PASS SVLEN=1229;SVTYPE=INS;SUPP_VEC=ONT_severus_INS18001,ONT_Sniffles2.INS.33BM3,ONT_i_281,PB_severus_INS15871,PB_Sniffles2.INS.325M3,PB_i_673

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr4:112897566#ribbon

jo-mc commented 1 month ago

Another truncated Line1 insertion from the germline(?) line-1 insertion in CHR14.

Still to complete documenting.. LOH in this region (complete chr4). sharp breakpoints, (chr4:116205918 chm13 co-ord) insert size variation based on poly-A. clonal.

Q what does splithreader show?

jo-mc commented 1 month ago