A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933621



Internal ID15880891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232340180..232450598hg38UCSC Ensembl
Innerchr2:233204890..233315308hg19UCSC Ensembl
Innerchr2:232913134..233023552hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38110419
hg19110419
hg18110419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584683
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)nssv933621
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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