A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv829306



Internal ID16123262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73527984..73561413hg38UCSC Ensembl
Innerchr14:73994688..74028117hg19UCSC Ensembl
Innerchr14:73064441..73097870hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3833430
hg1933430
hg1833430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565114
Supporting Variants
Samples
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv829306
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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