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Fig. 2 | Genome Medicine

Fig. 2

From: The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Fig. 2

De novo variants detected in BAB9637. a Ratio of transition to transversion is shown at the top of the bar graph. The bar graph represents the relative contribution of types of SNV. b Horizontal red bars represent each dnCNV that is associated with DNMs in proximity to the breakpoint. All seven DNMs found within 4 Mb of the breakpoints are highlighted with a star at the relative location. Maternal and paternal DNMs are highlighted in pink and green, respectively. The DNM at chr4, chr6, chr12, chr10, and chr14 are in cis with dnCNVs. c Sanger traces are visualized (proband, mother, and father) for DNMs. * The variant at the breakpoint junction. d Density of unphased DNM corresponding to the window size highlighting continuous drop-off of observed DNM after 4 Mb

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