Association between copy number variations in the OCA2-HERC2 locus and human eye colour

Human eye colour variation is strongly associated with single nucleotide polymorphisms (SNPs) in the OCA2-HERC2 locus, especially rs12913832 that found an enhancer element of OCA2. In a previous study we 43 out 166 individuals Norwegian population brown genotype HERC2 rs12913832:AA or AG, did not have expected colour. To investigate if duplications deletions locus could explain blue these individuals, analysed massively parallel sequencing (MPS) data for copy number variations (CNVs) region. The ?500 kb long was sequenced 94 rs12913832:AG and AA genotypes. Of these, were observed to 51 CNVs using R R-package panelcn.MOPS - CNV detection tool targeted NGS panel data. 32 regions significantly (Benjamini-Hochberg adjusted p-value ? 0.05). 14 raw p-values (p functional effects on OCA2 expression are yet be investigated. However, this suggests might why some unexpectedly eyes.