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Fig. 2 | Human Genomics

Fig. 2

From: Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

Fig. 2

IGV view of the reads mapping onto the gene YY1AP1. At the bottom isoforms of the gene are shown. High blue boxes correspond to coding exons and lower boxes to non-coding regions. The asterisk shows the position of the frameshift variant. In broken (black) arrows, the position of the deletion, as estimated by the structural variant algorithm. In full (red) arrow, the corrected breakpoints’ positions as determined by Sanger sequencing

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Human Genomics

ISSN: 1479-7364