PMC:3475484 / 648-2790 JSONTXT

{"project":"2_test","denotations":[{"id":"23105931-17289997-44845749","span":{"begin":198,"end":199},"obj":"17289997"},{"id":"23105931-19597530-44845749","span":{"begin":198,"end":199},"obj":"19597530"},{"id":"23105931-17637735-44845749","span":{"begin":198,"end":199},"obj":"17637735"},{"id":"23105931-16709669-44845750","span":{"begin":413,"end":414},"obj":"16709669"},{"id":"23105931-17597779-44845750","span":{"begin":413,"end":414},"obj":"17597779"},{"id":"23105931-17296953-44845750","span":{"begin":413,"end":414},"obj":"17296953"},{"id":"23105931-17160897-44845750","span":{"begin":413,"end":414},"obj":"17160897"},{"id":"23105931-16651370-44845751","span":{"begin":1190,"end":1191},"obj":"16651370"},{"id":"23105931-16429432-44845752","span":{"begin":1433,"end":1434},"obj":"16429432"},{"id":"23105931-18484585-44845753","span":{"begin":1508,"end":1510},"obj":"18484585"},{"id":"23105931-20026555-44845754","span":{"begin":1896,"end":1898},"obj":"20026555"}],"text":"Introduction\nCopy number variation (CNV) is a common type of structural variation in the human genome. They have been suggested to be related to disease susceptibility or human phenotype diversity [1-3]. Current genome-wide association studies of CNVs are attempting to find how they are related to disease susceptibility or phenotypic diversity. Due to the fact that frequencies of CNVs show ethnic differences [4-7], a finding of disease or phenotype association of a specific CNV in one population is hard to generalize to other populations. However, by comparing the frequencies of target CNVs among different ethnic groups, we could assume the population-specific disease susceptibility or phenotype difference.\nIn this regard, CNV frequency information of various populations has become a major concern of population or disease association studies.\nWith increasing interest in CNVs, many CNV projects have been announced recently. Many of them have already established large databases of CNVs from many different ethnic groups (Database of Genomic Variants [DGV], http://projects.tcag.ca; The Copy Number Variants Projects, http://www.sanger.ac.uk/research/areas/humangenetics/cnv/) [8]. There are also several databases for supporting population-specific studies, including the CNV Control Database for Japanese (http://gwas.lifesciencedb.jp), the Singapore Human Mutation and Polymorphism Database (shmed.bii.a-star.edu.sg) [9], and the Thailand Mutation and Variation Database (www4a.biotec.or.th) [10]. The accumulation of CNV information seems promising, in that we can gradually extend the knowledge of CNVs everywhere in the world. However, it will take a long time to fill the gap of CNV databases covering the whole population.\nAs a step to fill this gap, we discovered a Korean CNV with Affymetrix Genome-Wide SNP array 5.0 (Affymetrix, Santa Clara, CA, USA) in a previous study [11]. In this study, we built a Korean database based on the findings of 4,003 copy number variation regions (CNVRs). To build a tool that is easily accessible via the web for Korean-specific CNV studies, we built a viewer for browsing these CNVs."}