A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587974



Internal ID16028697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46237936..46238705hg38UCSC Ensembl
Innerchr21:47657850..47658619hg19UCSC Ensembl
Innerchr21:46482278..46483047hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38770
hg19770
hg18770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7928n54
Supporting Variantsnssv949341
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)nsv587974
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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