A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524920



Internal ID18476515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111744441..111875307hg38UCSC Ensembl
Innerchr12:112182245..112313111hg19UCSC Ensembl
Innerchr12:110666628..110797494hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38130867
hg19130867
hg18130867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048119
Supporting Variants
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524920
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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