[chr1:23272628-23272628][BND][JoinedTo=chr5:52747359]]

[jzook]

chr1 23272628 Minda_1 N N]chr5:52747359] . PASS SVLEN=-1;SVTYPE=BND;SUPP_VEC=PB_severus_BND155_2,PB_r_6_1,ONT_severus_BND141_2,ONT_ID_6683_2,ONT_r_7_1,ILL_gridss2ff_7222h,ILL_MantaBND:3367:0:1:0:0:0:1,PB_ID_4291_2,ILL_3833354393:2

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr1:23272628#ribbon

[jmcdani]

Appears to be translocation with ~26kb of chr5.

Translocations event seems to be associated with a drop in coverage 200--> 100X. Three appears to be a loss of a copy, seeing variants in lower coverage region going from het (N) to hom (T). I do have a bit of insider knowledge though that the higher coverage is a duplication of one haplotype.

Breakpoint appears to be correct If including 1bp padding breakpoint appears exact Unsure if in all the cells There appears to be a germline event that is also in some portion of the tumor cells but might not be in those with translocation ??