A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587147



Internal ID16374556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18685601..18706106hg38UCSC Ensembl
Innerchr21:20057919..20078424hg19UCSC Ensembl
Innerchr21:18979790..19000295hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3820506
hg1920506
hg1820506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7779n54
Supporting Variantsnssv946146, nssv946148, nssv946147, nssv946149, nssv946145
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587147
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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