A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933618



Internal ID15880888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232320342..232450598hg38UCSC Ensembl
Innerchr2:233185052..233315308hg19UCSC Ensembl
Innerchr2:232893296..233023552hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38130257
hg19130257
hg18130257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584679
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)nssv933618
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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