A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524613



Internal ID18476208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72253860..72881746hg38UCSC Ensembl
Innerchr12:72647640..73275526hg19UCSC Ensembl
Innerchr12:70933907..71561793hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38627887
hg19627887
hg18627887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044083
Supporting Variants
Samples
Known GenesTRHDE, TRHDE-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524613
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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