A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2799210



Internal ID15387205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73543359..73545863hg38UCSC Ensembl
Innerchr14:74010063..74012567hg19UCSC Ensembl
Innerchr14:73079816..73082320hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382505
hg192505
hg182505
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514749
Supporting Variants
SamplesNA19116
Known GenesACOT1, HEATR4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2799210
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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