Fig. 1

dnCNV and dnSNV identified with multiple genomic approaches. a Pedigree (left) of the MdnCNV family HOU3579. In the middle, the sequencing platform and variant calling pipeline are illustrated. Shown on the right, from top to bottom, is  the visualization of an example of dnCNV in CMA, 1 M aCGH, short-read genome sequencing read depth, short-read genome sequencing B-allele frequency, and IGV view a high-quality dnSNV call. b Log2 ratio of phased dnCNV in genome-wide view with chromosomes along the x-axis. Gains present on chromosomes 4, 6, 12, and 14 are each indicated with a green dot representing duplication on the paternally inherited chromosome. Gains present on chromosomes 5, 10, 13, and 21 are each indicated with a pink dot representing duplication on the maternally inherited chromosome. The text adjacent to each dot denotes the size (in Mb) of each dnCNV. c Pedigree of MdnCNV family (top) with aCGH result for each dnCNV region. Parental origin of each chromosome harboring a dnCNV in the proband is indicated by a “P” (paternal) or “M” (maternal) on each array