Fig. 4

Schematic representation of the normal and duplication-containing alleles for each exemplar case. a Case 1: note the partial duplication of VHL intron 2 and the exon 3 untranslated region. The panel inset displays a sequence chromatogram that shows the beginning of the duplicated intron 2 sequence (vertical dashed red line). A region of 100% sequence identity, within intron 2, is adjacent to the duplication breakpoint (see green-colored coordinates and annotated region of surrounding homology). The start and end sites of the duplicated sequence intersect SINE family repeats. b Case 2, showing the duplicated region extending from DMD intron 29 to intron 44. A 10 bp insertion was identified at the duplication junction. Introns are colored gray and exons blue, with hatching denoting 5′ and 3′ untranslated regions. Genomic coordinates are displayed according to chromosome 3 of human reference genome build hg19