A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584681



Internal ID16372090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232340180..232438423hg38UCSC Ensembl
Innerchr2:233204890..233303133hg19UCSC Ensembl
Innerchr2:232913134..233011377hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3898244
hg1998244
hg1898244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7337n54
Supporting Variantsnssv1150755, nssv1150756
Samples1798860047_A, 1780862002_A
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)nsv584681
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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