Repository | HGVD

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 ID Disease/Trait #Sample Access Data Type Platform Release Date

HGV0000001 Coffin-Siris syndrome 2 Controlled Exome HiSeq2000 20140424

HGV0000002 Intracranial Aneurysms 42 Controlled Exome HiSeq2000 20150206

HGV0000003 MIRAGE syndrome 4 Controlled Exome GAII/HiSeq 20160516

HGV0000004 Japanese control samples 300 Controlled Exome SOLiD/HiSeq2500 20170407

HGV0000005 Pulmonary arterial hypertension 17 Controlled Exome/Whole-genome SOLiD/HiSeq2500 20170407

HGV0000007 Autism Spectrum Disorder 786 Controlled Exome HiSeq2500/2000 20171124

HGV0000008 Neuronal Intranuclear inclusion disease 12 Controlled Target NanoPore 20190516

HGV0000010 Congenital Hypothyroidism 5 Controlled Exome HiSeq4000 20190606

HGV0000011 Mitochondoria Genome 2142 Controlled WGS HiSeqX 20210613

HGV0000012 Developmental and epileptic encephalopathy 4 Controlled Exome HiSeq2000 20200720

HGV0000013 Amyotrophic Lateral Sclerosis 1173/21979/23213 Open GWAS SNP chip 20200923

HGV0000015 HTLV-1 associated myelopathy 731/846 Open GWAS SNP chip 20210301

HGV0000018 Cardiomyopathy 500 Controlled Exome Hiseq2500/3000 20210511

HGV0000019 Ovarian Clear Cell Carcinoma tumor 39/normal 16 Controlled Exome Hiseq2000 20210823

HGV0000020 Human blood metabolite 4,888 Open GWAS SNP chip 20210823

HGV0000021 Amyotrophic Lateral Sclerosis 1,076 Open GWAS SNP chip 20230502

Accession ID	Disease/Trait	#Sample	Access	Data Type	Platform	Release Date
HGV0000001	Coffin-Siris syndrome	2	Controlled	Exome	HiSeq2000	20140424
HGV0000002	Intracranial Aneurysms	42	Controlled	Exome	HiSeq2000	20150206
HGV0000003	MIRAGE syndrome	4	Controlled	Exome	GAII/HiSeq	20160516
HGV0000004	Japanese control samples	300	Controlled	Exome	SOLiD/HiSeq2500	20170407
HGV0000005	Pulmonary arterial hypertension	17	Controlled	Exome/Whole-genome	SOLiD/HiSeq2500	20170407
HGV0000007	Autism Spectrum Disorder	786	Controlled	Exome	HiSeq2500/2000	20171124
HGV0000008	Neuronal Intranuclear inclusion disease	12	Controlled	Target	NanoPore	20190516
HGV0000010	Congenital Hypothyroidism	5	Controlled	Exome	HiSeq4000	20190606
HGV0000011	Mitochondoria Genome	2142	Controlled	WGS	HiSeqX	20210613
HGV0000012	Developmental and epileptic encephalopathy	4	Controlled	Exome	HiSeq2000	20200720
HGV0000013	Amyotrophic Lateral Sclerosis	1173/21979/23213	Open	GWAS	SNP chip	20200923
HGV0000015	HTLV-1 associated myelopathy	731/846	Open	GWAS	SNP chip	20210301
HGV0000018	Cardiomyopathy	500	Controlled	Exome	Hiseq2500/3000	20210511
HGV0000019	Ovarian Clear Cell Carcinoma	tumor 39/normal 16	Controlled	Exome	Hiseq2000	20210823
HGV0000020	Human blood metabolite	4,888	Open	GWAS	SNP chip	20210823
HGV0000021	Amyotrophic Lateral Sclerosis	1,076	Open	GWAS	SNP chip	20230502

Human Genetic Variation Database

Data Repository

Data Content and Organization

Human