A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031780



Internal ID19121002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39527169hg38UCSC Ensembl
Innerchr8:39235591..39384688hg19UCSC Ensembl
Innerchr8:39354748..39503845hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38149098
hg19149098
hg18149098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3686085, nssv3686089, nssv3757946, nssv3686088, nssv3686087, nssv3686086
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)nsv1031780
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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