Skip to main content
. 2023 Feb 2;9(1):e200050. doi: 10.1212/NXG.0000000000200050

Figure 1. CNV Deletions in ITPR1 and PPP2R2B.

Figure 1

Analysis and visualization was performed using NxClinical software. (A) CNV deletion found in patients 1 and 2 (father and daughter). The deletion, located on chromosome 3p26.1, includes ITPR1 (exons 1–41) and SUMF1 (exons 1 and 2) and has a minimum size of 260.8 kb (108 SNP probes). (B) CNV deletion found in patient 3. The deletion is located on 5q32 with a minimum size of 63.6 kb (21 SNP probes), which includes the first 2 exons of PPP2R2B. The red deleted regions show homozygosity and low copy number. The upper plot shows low values for log R ratio (<0), indicating a CNV deletion. In the lower plot, the B allele frequency is not clustering around 0.5 due to the deletion of 1 copy of the corresponding gene, fitting a heterozygous pattern. Each SNP is shown as a dot. CNV = copy number variant; SNP = single nucleotide polymorphism.