A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587970



Internal ID16375379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46237682..46238705hg38UCSC Ensembl
Innerchr21:47657596..47658619hg19UCSC Ensembl
Innerchr21:46482024..46483047hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381024
hg191024
hg181024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7927n54
Supporting Variantsnssv949335, nssv949333, nssv949337, nssv949336, nssv949334
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)nsv587970
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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