A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2800500



Internal ID15380818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73541583..73541759hg38UCSC Ensembl
Innerchr14:74008287..74008463hg19UCSC Ensembl
Innerchr14:73078040..73078216hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38177
hg19177
hg18177
Variant TypeCNV gain
Copy Number7
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514748
Supporting Variants
SamplesNA19096
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)nssv2800500
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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