A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587972



Internal ID16375381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46237833..46238705hg38UCSC Ensembl
Innerchr21:47657747..47658619hg19UCSC Ensembl
Innerchr21:46482175..46483047hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38873
hg19873
hg18873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7927n54
Supporting Variantsnssv949339
Samples
Known GenesMCM3AP, MCM3AP-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587972
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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