A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2952554



Internal ID15597489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98922620..98926356hg38UCSC Ensembl
Innerchr8:99934848..99938584hg19UCSC Ensembl
Innerchr8:100004024..100007760hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg383737
hg193737
hg183737
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515049
Supporting Variants
SamplesNA07357
Known GenesSTK3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2952554
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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