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

Figure 1

Complex structural rearrangements and genomic architecture at the SRRM2 locus. (a) IGV read alignments and subway plots showing 4 de novo structural rearrangements leading to SRRM2 haploinsufficiency. Region shown is 16 : 2,418,234-3,200,000 (GRCh38). Horizontal blue and green arrows indicate noninverted and inverted chromosome segments, respectively, whilst dotted red lines indicate junctions. For Family 3, a second possible configuration that could explain the short-read data is indicated. (b) Dot plot using reference sequence for the same region shown in (a) highlights a palindrome of ~144 kb (red arrow/box). A zoomed-in dot plot is shown in Figure S1.

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