Copy number gain in PRPH. (Upper) q13 region of Chromosome 12 is shown. (Middle) Individual points show the Log R Ratio (LRR) and beta allele frequency (BAF) of SNV genotyping SNPs between base position 49640000 and 49740000 on Chromosome 12 (GRCh37 build). Positive LRR values in the gray shaded region are consistent with a copy number gain in that region (>3 SDs above the mean of the cohort) (see Supplemental Methods). The PRPH gene within that genomic region is identified on the x-axis. (Lower) 5′ position of the final SNP in the copy number region in the three different CNVs identified and their relevant position in the PRPH protein (orange, green, blue), highlighting that three different CNV end positions were identified in patients within the study within the PRPH gene.