A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2954425



Internal ID15725514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117861844..117862652hg38UCSC Ensembl
Innerchr8:118874083..118874891hg19UCSC Ensembl
Innerchr8:118943264..118944072hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38809
hg19809
hg18809
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515058
Supporting Variants
SamplesNA19092
Known GenesEXT1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2954425
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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