A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2799781



Internal ID15660348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73535999..73536359hg38UCSC Ensembl
Innerchr14:74002703..74003063hg19UCSC Ensembl
Innerchr14:73072456..73072816hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38361
hg19361
hg18361
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514747
Supporting Variants
SamplesNA12891
Known GenesHEATR4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2799781
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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