Provides multi-class CNV regions and well-tagged SNP information. The data were obtained from 4694 individuals using two different genotyping platforms and publicly available CNV data. The major features of KGVDB that are different from others include the following: (i) polymorphic CNV regions identified under strict quality controls and manual curation; (ii) CNV information from Korean populations to supplement currently biased ethnic information; (iii) large dataset of CNVs tagged with SNPs from 4694 individuals using two different genotyping platforms (SNP array and CGH array); (iv) rich information on tagging SNPs, including frequencies in HapMap populations; and (v) copy number states of the reference sample using log2 ratios from two kinds of CGH data and the depth of coverage from whole-genome sequencing data. The large dataset of KGVDB will provide a rich public resource for the study of CNV and SNP.
Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, Korea; Division of Bio-Medical informatics, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, Korea; School of Computer Science and Engineering, Inha University, Inchon, Korea; Korean Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Korea
KGVDB funding source(s)
The Korean National Institute of Health (2012-N73004-00, 2011-N72001-00); the Korean Centers for Disease Control and Prevention (4845-301, 4851-302, 4851-307)