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November 01, 2007 (Vol. 27, No. 19)

Database of Genomic Variants

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Viva la differencia! Such is the theme of the Database of Genomic Variants, which aims “to provide a comprehensive summary of structural variation in the human genome.” In contrast to the interest in SNPs (single nucleotide polymorphisms), the Database of Genomic Variants (DGV) focuses on altered DNA segments that are greater than 1 kb in length. As such, DGV is an important site that provides yet another perspective of human genomic variation. Some of these differences are due to the recently recognized copy number variation and cause human DNAs to vary more than previously thought. As noted at the site, 2,000 copy number variants have been described with thousands more to be described. The average size detected to date is about 250,000 bases. Gulp. These are not small differences, obviously. Not surprisingly, these differences are involved, in some cases, in disease, as well as in rapidly evolving coding regions (for the brain, for example), but not in commonly needed functional domains (cell division, for example). If genetic variation is your interest, DGV needs to be on your radar.
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