What is the DGVa?


The Database of Genomic Variants archive (DGVa) is a public catalogue of structural variation found in the genomes of individuals within a species.

Why do we need the DGVa?

In recent years there have been unprecedented advances in the technologies that characterise genomic variation, and it is well known that variation at the single nucleotide level is abundant across the genomes of all species. However, it is becoming clear that genomic structural variation accounts for more of the individual differences at the base pair level in humans and is likely to play a major role in disease. Two other areas of research that are becoming increasingly important in this field are discovering how genomic structural variation affects an individual's characteristics, and understanding the role that genomic structural variation has played in the evolution of species. The DGVa catalogues, stores and freely disseminates this important class of genomic variation in any species, providing a valuable resource to a large community of researchers (Figure 1).          

Figure 1 Diagram illustrating that the DGVa is a central archive that receives data from, and distributes data to, a number of resources. The DGVa accepts direct submissions from researchers and performs manual curation from the literature. The DGVa also exchanges data on a regular basis with dbVar (a peer archive hosted by NCBI in the USA). Data can be retrieved from DGVa's data download page.  Data can be viewed in a richly annotated genomic context using the Ensembl genome browser, or selectively mined and downloaded using Ensembl BioMart. The DGVa also supplies data to DGV (Database of Genomic Variants, hosted by The Centre for Applied Genomics in Canada), where additional annotation and interpretation is performed.