HGV Database


The HGV database is managed by Human Genome Variation and powered by Figshare. It is a fully searchable online database of genome variants, which have been published in the peer-reviewed Data Reports and relevant articles in Human Genome Variation. You can search and filter by different variables, including specific disease, gene, population or region. To go to HGV Database please click here.

HGV Data Reports and Database FAQs

What are Data Reports?
Data Reports are short reports about human genome variation and variability which describe disease-causing genomic variants and/or their frequencies. Data Reports will be a key part of this journal, providing a standardized format of reporting about genomic variation and variability and an accompanying HGV Database of the reported variants.

What is the HGV Database?
Human Genome Variation will host a fully searchable online database of genomic variation as documented in the published Data Reports. A set of standard information about each variation is collected from papers published in the journal, and added to the database after screening by the reviewers. It is a completely free database, which anybody can access and utilize.

What are the publishing criteria for data in the HGV Database?
The HGV Database captures the relevant information reported within the published Data Reports. All manuscripts submitted to Human Genome Variation receive rigorous peer-review and quality checks by reviewers and editors before publication. Data Report authors are asked to check the mutation description information with the mutalyzer name checker (https://mutalyzer.nl) or relevant description checking system, and make sure that description follows the HGVS nomenclature in advance of submission. Please state in the manuscript cover letter that the checking process was undertaken.

How are Data Reports and the HGV Database related and interconnected?
Each set of information in the HGV Database is linked to the relevant Data Report and each Data Report will contain a link to the relevant data in the HGV Database.

What information is collected?
The data collected for the HGV Database includes:

  • Gene name
  • OMIM #
  • Mutation type
  • Disease / Phenotype
  • GenBank accession number
  • Mutation (HGVS format)
  • Protein alteration
  • Codon / Base change
  • Chromosome
  • Genome position
  • de novo / inherited
  • Region
  • Ethnicity / Population
  • Reference

Who can use the HGV Database? 
Human Genome Variation is an online, fully Open Access Journal. The HGV Database is available on the internet and free for all to access and search.

What is Open Access and what is NPG’s Open Access policy?
For questions about NPG’s Open Access policy, please go to the ‘Open Access FAQ’ page.

How can we submit and register our data? 
If your paper is accepted, you will be asked to provide the relevant data for the database. The data and manuscript are then prepared during the production process for publication.

What Creative Commons license does Human Genome Variation offer for my data in the HGV Database?
To maximize reuse, the data (i.e. the facts themselves) in the HGV database will be published under a "CC0” license. Data Reports and other article types will be published under the license chosen by the author as described in the Guide to Authors.

What are the capabilities of the database? How do I use it?
Users can easily search and locate reported genome variations by specific disease, gene, population or region, and via links access the original Data Report.