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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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[chr15:44117202-44248470][DUP][SVLEN=131268bp] #256

Open jzook opened 1 month ago

jzook commented 1 month ago

chr15 44117202 Minda_44 N <DUP> . PASS SVLEN=131268;SVTYPE=DUP;SUPP_VEC=ILL_MantaDUP:TANDEM:218626:0:1:0:0:0,ILL_gridss234bf_3312h,PB_severus_DUP2209,PB_ID_20431_2,ILL_1111854780:2,PB_r_123

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr15:44117202#ribbon

aquaskyline commented 1 month ago

Correct tandem duplication. Breakpoints are exact and match Dragen results. Likely subclonal. Screenshot 2024-10-13 at 21 48 42 Screenshot 2024-10-13 at 21 50 04 Screenshot 2024-10-13 at 22 08 07

Left-end breakpoint: Screenshot 2024-10-13 at 22 09 59

Right-end breakpoint: Screenshot 2024-10-13 at 22 11 04