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Figure 2 | BMC Medical Genomics

Figure 2

From: Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

Figure 2

a Chromatograms of ATM sequence in the proband (top), the patient’s father (middle), and the patient’s mother (bottom) showing an SNV of c.742C > T (p.Arg248Ter) from the father. b Analysis of the next-generation sequencing data using VisCap. c SNP array analysis of the chromosome from the proband (top), the patient’s mother (middle), and the patient’s father (bottom) showing a novel CNV by the deletion of exons 24–40 from the mother. SNV single-nucleotide variation, SNP single-nucleotide polymorphism, CNV copy number variation

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