A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

Figure 2

Inference of de novo status of deletion by haplotype analysis. Regions shown are 16 : 3071987-3072027 16 : 3076654-3076693 16 : 3080121-3080161 16 : 3089289-3089328 16 : 3089345-3090809 (GRCh38). Read alignments show 6 SNPs inside the deleted region which are hemizygous for the alternate allele in the proband but homozygous for the reference allele in the mother. The nondeleted chromosome in the proband must have been inherited from the father. The panel on the rights highlights the proximal deletion breakpoint where split read-pairs (blue) and a drop in coverage are seen only in data from the proband. In contrast with the exonic NEDD4L deletion (Figure S2a) there was no indication of any mosaicism.