Fig. 1.

Identification of AVPR2 deletion. A Schematic presentation showing (from top to bottom) the position of genes, amplicons for clinical sequencing of AVPR2, amplicons for PCR mapping, and repetitive sequences in the RepeatMasker track. Amplified amplicons are coloured green, not amplified magenta. PacBio HiFi reads of long-range amplicons aligned to the human genome reference sequence (hg19) showing the unambiguous 7526 bp deletion (chrX:153,166,367–153,173,893) are shown at the bottom. Separate alignments from the same read are connected by a thin line. B Sanger sequencing of the breakpoint junction confirming the deletion breakpoints. The breakpoint junction is indicated by a dashed line