[chr12:128155614-128291495][DUP][SVLEN=135881bp]

[jzook]

chr12 128155614 Minda_33 N <DUP> . PASS SVLEN=135881;SVTYPE=DUP;SUPP_VEC=ILL_MantaDUP:TANDEM:199071:0:1:0:0:0,ILL_gridss207bf_2141h,ONT_severus_DUP1766,PB_severus_DUP1605,PB_ID_57155_2,ILL_3407879594:2,PB_r_80,ONT_r_71,ONT_ID_20177_2,ONT_Sniffles2.DUP.390MB,PB_Sniffles2.DUP.34EMB

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr12:128155614#ribbon

[jmcdani]

Appears to be true tandem duplication that is likely clonal in a region with loss of one haplotype.

Region shows ~10X coverage, potential loss of haplotype, however duplicated regions is ~200X which would be expected with duplication.

Ribbon shows duplication is tandem, but not present in all reads

het variants present in normal are homozygous in tumor for further evidence of loss of haplotype.

Breakpoints appear to be exact when aligning to left of homologous sequence at either end (ATG) LEFT

RIGHT