[chrX:69807093-69807569][INS][SVLEN=476bp]

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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[chrX:69807093-69807569][INS][SVLEN=476bp] #298

Open jzook opened 1 month ago

jzook commented 1 month ago

chrX 69807093 Minda_152 N <INS> . PASS SVLEN=476;SVTYPE=INS;SUPP_VEC=ONT_Sniffles2.INS.21CM16,ONT_severus_INS21943,ONT_i_409,ONT_ID_50359_1,PB_severus_INS19310,PB_i_938,PB_Sniffles2.INS.207M16

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chrX:69807093#ribbon

jo-mc commented 1 month ago

Line1 insertion 5' truncated exact breakpoints

Insert has poly-A variable length causing range of lengths from ~478 to 519.

Appears clonal and appears heterozygous.