A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017384



Internal ID18759918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39548183hg38UCSC Ensembl
Innerchr8:39235591..39405702hg19UCSC Ensembl
Innerchr8:39354748..39524859hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38170112
hg19170112
hg18170112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3687611, nssv3687612
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017384
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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