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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus

Fig. 2

Family pedigree and segregation analysis. A Pedigree of the family with X-linked NDI and segregation of the 7.5 kb deletion (chrX:153,166,367–153,173,893). Available genotypes are shown below symbols: Del – deletion allele, Wt – wild-type allele. B Sanger sequencing of the breakpoint junction in the proband and available family members. The breakpoint junction is indicated by a dashed line. c qPCR data showing the relative copy number of AVPR2 in suspected female carriers (II:2 and II:4) and the control male to the copy number in the control female

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BMC Medical Genomics

ISSN: 1755-8794

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