A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584630



Internal ID16372039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228501467..228566625hg38UCSC Ensembl
Innerchr2:229366183..229431341hg19UCSC Ensembl
Innerchr2:229074427..229139585hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3865159
hg1965159
hg1865159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7326n54
Supporting Variantsnssv1150750, nssv1150749
SamplesHGDP00470, HGDP00451
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584630
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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