A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587969



Internal ID16375378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46237682..46238438hg38UCSC Ensembl
Innerchr21:47657596..47658352hg19UCSC Ensembl
Innerchr21:46482024..46482780hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38757
hg19757
hg18757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7926n54
Supporting Variantsnssv949332
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)nsv587969
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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