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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

Vona Barbara et al., Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-72

Kooper JA Angelique et al., Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis. Molecular Cytogenetics (2014) doi:10.1186/1755-8166-7-6

Iversen S Edwin et al., Functional annotation signatures of disease susceptibility loci improve SNP association analysis Human and rodent genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-398

Marques Z Francine et al., Measurement of absolute copy number variation reveals association with essential hypertension Functional and structural genomics. BMC Medical Genomics (2014) doi:10.1186/1755-8794-7-44

Surace Cecilia et al., Telomere shortening and telomere position effect in mild ring 17 syndrome. Epigenetics Chromatin (2014) doi:10.1186/1756-8935-7-1

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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