A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044083



Internal ID18786614
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 StatusM
Merged Variants
Supporting Variantsnssv3524613
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)nsv1044083
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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