A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2888242



Internal ID15290805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9424482..9425671hg38UCSC Ensembl
Innerchr2:9564611..9565800hg19UCSC Ensembl
Innerchr2:9482062..9483251hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381190
hg191190
hg181190
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514992
Supporting Variants
SamplesNA12414
Known GenesCPSF3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2888242
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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