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Fig. 4 | BMC Genomics

Fig. 4

From: cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

Fig. 4

Identification of PIDD-causing variants using cnvScan. a Pedigree with an affected uncle and nephew (II.1 and III.1). b aCGH confirmation of the MAGT1 deletion in the obligate carrier II.2. c IGV screenshot showing the MAGT1 deletion (exon 3 to 8) in patient II.1 and III.1 in comparison with the normal coverage of MAGT1 from a healthy male. The flanking exons (2 and 9) show normal coverage in II.1 and III.1, however there are no reads covering exons 3–8, indicating a deletion of the region

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