A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1003387



Internal ID16297343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:95707502..96165467hg38UCSC Ensembl
Innerchr4:96628653..97086618hg19UCSC Ensembl
Innerchr4:96847676..97305641hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38457966
hg19457966
hg18457966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594915
Supporting Variants
Samples
Known GenesPDHA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1003387
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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