Genome Data Repository

Data Content and Organization

    HGVD provides an access to a variety of human genome data sets.
  • Open-Access Data can be downloaded without prior permission or authorization.
  • Controlled-Access Data can only be obtained if a user has been authorized by the appropriate collaborative research agreement.
Accession IDDisease/Trait#SampleAccessData TypePlatformRelease Date
HGV0000001Coffin-Siris syndrome2ControlledExomeHiSeq200020140424
HGV0000002Intracranial Aneurysms42ControlledExomeHiSeq200020150206
HGV0000003MIRAGE syndrome4ControlledExomeGAII/HiSeq20160516
HGV0000004Japanese control samples300ControlledExomeSOLiD/HiSeq250020170407
HGV0000005Pulmonary arterial hypertension17ControlledExome/Whole-genomeSOLiD/HiSeq250020170407
HGV0000007Autism Spectrum Disorder786ControlledExomeHiSeq2500/200020171124
HGV0000008Neuronal Intranuclear inclusion disease12ControlledTargetNanoPore20190516
HGV0000010Congenital Hypothyroidism5ControlledExomeHiSeq400020190606
HGV0000012Developmental and epileptic encephalopathy4ControlledExomeHiSeq200020200720