Fig. 2: Genomic alignment of CHD2 and AHDC1 CNVs in genome sequencing data. | European Journal of Human Genetics

Fig. 2: Genomic alignment of CHD2 and AHDC1 CNVs in genome sequencing data.

From: The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Fig. 2: Genomic alignment of CHD2 and AHDC1 CNVs in genome sequencing data.

Visualization of genomic alignment of GS data in the Integrative Genomics Viewer (IGV) software for two CNVs that were detected by GS only. A 5 kb deletion in CHD2 at 15q26.1(93494184-93499518)x1 (patient 33), encompassing exon 14 and 15. B 36 kb deletion in AHDC1 at 1p36.11(27833526-27869757)x1 (patient 47), including the (non-coding) exon 9 (3′UTR). CNVs are visible from multiple lines of evidence, including read depth (A + B; arrow) and read pairs with larger than expected insert size (A; reads in red).

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