A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000817



Internal ID19090034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47886240..47990911hg38UCSC Ensembl
Innerchr3:47927730..48032401hg19UCSC Ensembl
Innerchr3:47902734..48007405hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38104672
hg19104672
hg18104672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595250
Samples
Known GenesMAP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000817
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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