[chr20:43435693-43624740][DUP][SVLEN=189047bp]

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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[chr20:43435693-43624740][DUP][SVLEN=189047bp] #288

Open jzook opened 1 month ago

jzook commented 1 month ago

chr20 43435693 Minda_88 N <DUP> . PASS SVLEN=189047;SVTYPE=DUP;SUPP_VEC=ILL_MantaDUP:TANDEM:252831:0:1:0:0:0,ILL_gridss276bf_246h,PB_severus_DUP4142,ONT_severus_DUP4741,PB_ID_38285_2,PB_r_238,ONT_ID_27205_2,ONT_r_148,ILL_3893759457:2,PB_Sniffles2.DUP.1C2M13

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr20:43435693#ribbon

Maryamjehangir77 commented 1 month ago

Tandem duplication appears to be a true event in a region with 300x coverage, where the coverage increases to approximately 400x, supported by analysis in the SplitThreader. The breakpoints are precisely defined, confirming the duplication event.

Screenshot 2024-10-15 at 4 49 53 PM

left breakponit

right breakpoint