[chr19:38981212-38983523][INV][SVLEN=2311bp]

[jzook]

chr19 38981212 Minda_66 N <INV> . PASS SVLEN=2311;SVTYPE=INV;SUPP_VEC=PB_severus_INV3303,ONT_severus_INV3732,PB_ID_62680_2,ONT_ID_51603_2,PB_Sniffles2.INV.207M12,ONT_Sniffles2.INV.216M12,ILL_MantaBND:247405:0:1:0:0:0:1,PB_r_197_1,ONT_r_119_1,ILL_gridss269bb_1922h

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr19:38981212#ribbon

[jmcdani]

Appears to be true inversion, breakpoints unclear, might be sub clonal.

het germline variants maintained in tumor, including small deletion (~12bp) that appears to be phased with the ALT in germline het.

Inversion appears to be supported by less than half of the reads, ~44%. (ONT), ~22% (PacBio) and ~31% (element) ... possibly sub clonal? Moreover, het variants are in reads not associated with inversion and het appear to be 50/50.

Unsure of left breakpoint, at first thought there was homologous sequence however looking in IGV looks like left breakpoint has TCA and right breakpoint has TGA however there is a SNP at the right breakpoint that might be causing problems with alignment. LEFT

RIGHT