A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040459



Internal ID18782990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63599815..63747736hg38UCSC Ensembl
Innerchr13:64173948..64321869hg19UCSC Ensembl
Innerchr13:63071949..63219870hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38147922
hg19147922
hg18147922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1685n100
Supporting Variantsnssv3526608
Samples
Known GenesLINC00395, OR7E156P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040459
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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