GVS: Genome Variation Server 144

About GVS

The Genome Variation Server (GVS), fed by a local database, enables rapid access to human genotype data found in dbSNP, and provides tools for analysis of genotype data. The current release of genotype data found in the GVS database is that of dbSNP build 144 (May 2015). The variation locations are mapped to the human genome reference sequence of December 2013 (UCSC hg38, NCBI build 38). This GVS database contains 11.7 million variations with corresponding genotype data.

To be included in our database, a variation must have genotype data, and it must be uniquely mapped to the human genome by dbSNP. As most submitters to dbSNP report double genotypes for X and Y chromosome variations, we put double genotypes in our database, and changed single genotypes to (homozygous) double genotypes. If a genotype on the Y chromosome was reported to be heterozygous, we omitted it. We have not corrected the frequencies for male X chromosome genotypes.

A list of the files from which the database has been built can be found here.

The GVS will continue to be updated with new analysis features and with more genotype data as it becomes available.

This site is supported by the National Heart, Lung and Blood Institute (NHLBI).

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