[chr18:28482565-28482565][BND][JoinedTo=chrX:95810802[]

[jzook]

chr18 28482565 Minda_61 N N[chrX:95810802[ . PASS SVLEN=-1;SVTYPE=BND;SUPP_VEC=PB_severus_BND2977_2,PB_ID_40651_2,PB_r_193_1,ONT_r_115_1,PB_Sniffles2.BND.27CM16,ONT_severus_BND3370_2,ONT_ID_69817_2,ONT_Sniffles2.BND.29AM16

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr18:28482565#ribbon

[jmcdani]

Related to issue #272 Dragen does not have any call related to issue #272 or #273. The same information below is provided for #272. Added row in Dragen vcf for BND on chr18 but unsure of the details.

Does appear to be a reciprocal translocation with chrX but doesn't appear balanced.

Translocation on chrX however appears to only occur on one haplotype. Other haplotype on chrX does not appear to have translocation. Whereas chr18 has lost a haplotype and remaining haplotype has the translocation.

chr18 chr18 shows deleted region with clipped reads aligning to chrX size of region approximately 1.1kb

chrX chrX shows deleted region with clipped reads aligning to chr18 size of regions approximately 2kb