A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587627



Internal ID16028350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42257721..42304243hg38UCSC Ensembl
Innerchr21:43677831..43724353hg19UCSC Ensembl
Innerchr21:42550900..42597422hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3846523
hg1946523
hg1846523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152411
SamplesHGDP00187
Known GenesABCG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587627
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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