A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933620



Internal ID15880890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232340180..232444838hg38UCSC Ensembl
Innerchr2:233204890..233309548hg19UCSC Ensembl
Innerchr2:232913134..233017792hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38104659
hg19104659
hg18104659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584682
Supporting Variants
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933620
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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