| Abstract [eng] |
Lithuanian Population Genetic Analysis of Copy Number Variation Copy number variantion (CNV) is a chromosomal segment copy number variation which ranges from few hundret base pairs (bp) to few megabases (Mb) in length and varies in comparison with a reference genome, because of deletions, duplications, insertions or inverted duplikons. The aim of this study was to identify DNA copy number variations for 293 LITGEN project participants from large-scale genotyping data and evaluate their characteristics and distribution in Lithuanian population. There were 3535 autosomal high-confidence CNVs identified and 82,3 % individuals of the Lithuanian population are CNV carriers. Also overlapping CNVs were merged and constructed 1438 CNVR which covers 94,8 Mb autosomal human genome. More than half identified CNVRs (58,8 %) in Lithuanian population are rare, with frequency >0,5 %. From all identified CNVR even 98,2 % overlapped with regions in Database of Genomic Variance (DGV) and the remaining 1,8 % were not found in DGV and are unique for Lithuanian population. |
