A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584629



Internal ID16372038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228501467..228566205hg38UCSC Ensembl
Innerchr2:229366183..229430921hg19UCSC Ensembl
Innerchr2:229074427..229139165hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3864739
hg1964739
hg1864739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7326n54
Supporting Variantsnssv1150748, nssv1150747
SamplesHGDP00458, HGDP00464
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584629
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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