Data Repository

Data Content and Organization

    HGVD provides an access to a variety of 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.

Human

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
HGV0000011Mitochondoria Genome2142ControlledWGSHiSeqX20210613
HGV0000012Developmental and epileptic encephalopathy4ControlledExomeHiSeq200020200720
HGV0000013Amyotrophic Lateral Sclerosis1173/21979/23213OpenGWASSNP chip20200923
HGV0000015HTLV-1 associated myelopathy731/846OpenGWASSNP chip20210301
HGV0000018Cardiomyopathy500ControlledExomeHiseq2500/300020210511
HGV0000019Ovarian Clear Cell Carcinomatumor 39/normal 16ControlledExomeHiseq200020210823
HGV0000020Human blood metabolite4,888OpenGWASSNP chip20210823
HGV0000021Amyotrophic Lateral Sclerosis1,076OpenGWASSNP chip20230502