[chr18:22492810-23222922][DUP][SVLEN=730112bp]

[jzook]

chr18 22492810 Minda_59 N <DUP> . PASS SVLEN=730112;SVTYPE=DUP;SUPP_VEC=PB_severus_DUP2962,PB_r_191,ONT_severus_DUP3355,ONT_r_113,ILL_MantaDUP:TANDEM:239447:0:1:0:0:0,PB_ID_40649_2,ONT_ID_69814_2,ILL_2890530397:2,ILL_gridss260bf_172h,PB_Sniffles2.DUP.F4M11,ONT_Sniffles2.DUP.11AM11

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr18:22492810#ribbon

[jmcdani]

Appears to be true tandem duplication that is clonal

Increase in coverage in region from 200 --> 300X supports duplication

Appears to be a number of small variants within reads, variants appear generally consistent in duplicated region

Numerous germline small variants. Hets remain hets in tumor. Increase in coverage supporting duplication. Getting close to centromere.

Left and Right breakpoints exact Right breakpoint appears to be in CABLES1 gene region. Found the following aboutCABLES1 and PDAC , "pathways of PDAC are commonly affected by direct intragenic breakpoints during large genomic rearrangement events.....rearrangements with intragenic breakpoints hitting this gene in greater than 10% of cases with PDAC" (https://doi.org/10.1158%2F0008-5472.CAN-15-2198) BLAT of Revio right clipped sequence maps back to start of duplicated region