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Database of Genomic Variants, DGV, catalogs and displays structural variation in the human genome

Tutorial and training materials by OpenHelix

Learn to use The Database of Genomic Variants, or DGV , a curated catalog of structural variation within the human genome. All variation data is from normal non-diseased controls, yet the ramifications of the data go well beyond their role in normal phenotypic variability. Many highly variable regions are extremely important in disease and this field is only in its infancy currently. Copy-number variations, or CNVs, are under active pursuit. DGVs user-friendly format allows you to easily browse variation data in tabular or graphic format organized by chromosome location. Users can search by keywords, chromosome location, genes, sequence and more. Each variation entry has extensive details including where the original data was extracted from, links to many other resources, methodology, study details and the ability to view and manipulate your data using the DGVs GBrowse-based genome browser or UCSC and Ensembl's genome browsers.

Note: A new version of DGV has just launched. We will update this material soon to correspond with the new interface. Many of the concepts will remain the same, and a track of the data from the prior version will be available. For more details, see: Official Launch of the new Database of Genomic Variants (DGV) .

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You'll learn:

  • to browse and search through DGVs structural variant data
  • how to find, understand and link to more genomic variation details
  • to navigate and customize your data using the genome browser
  • how to perform a BLAT sequence search


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Recent BioMed Central research articles citing this resource

Lim Hyae Ji et al., Disease specific characteristics of fetal epigenetic markers for non-invasive prenatal testing of trisomy 21 Prognostics and diagnostics/biomarkers. BMC Medical Genomics (2014) doi:10.1186/1755-8794-7-1

Castellani A Christina et al., Biological relevance of CNV calling methods using familial relatedness including monozygotic twins Results and data. BMC Bioinformatics (2014) doi:10.1186/1471-2105-15-114

Ebert Grit et al., Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7 Human and rodent genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-537

Qiao Ying et al., Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID) Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-82

Chen Jin-Lan et al., Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11. Molecular Cytogenetics (2014) doi:10.1186/1755-8166-7-28

More about the resource:

DGV is hosted by the Centre for Applied Genomics located at the Hospital for Sick Children in Toronto, Canada. The majority of the structural variant data you find in DGV are Copy Number Variants, or CNVs, due to their prevalence in the human genome, but you also will see inversion and InDel data whenever it is available. The data is structured and clearly organized so that you can navigate to more details using both internal and external links with ease. DGV offers many useful resources, such as a newsletter and mailing list, which can also help to keep you abreast of all the latest DGV developments.


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