Functional annotation of copy number variants in Pakistani population

Copy number variations (cnvs) have recently presented a dynamic aspect to the apparently static human genome. this study was conducted to analyze the cnvs ≥ 1000 bp to sub-microscopic sizes in 39 healthy individuals from pakistani population. genotypic data was taken from publically available online hgdp dataset. common cnv regions and their frequency rates in the pakistani population were examined to gain deep insights of cnvs. total 2,016 cnvrs (60.2 on average in a sample) were discovered,96% of these regions were found reported in database of genomic variants (dgv). more than two thousand genes were observed fully or partially overlapped these regions. genes in the novel cnvrs from the pakistani samples were enriched for genes involved in regulation and development processes. we successfully discovered novel cnvrs in pakistani population. moreover,a pipeline for cnv analysis and its annotation was also developed. the results obtained will be a valuable resource for the estimation of effective level of cnvs in the pakistani population. copyright 2015 zoological society of pakistan.