A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587985



Internal ID16375394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46382747..46383975hg38UCSC Ensembl
Innerchr21:47802662..47803890hg19UCSC Ensembl
Innerchr21:46627090..46628318hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7932n54
Supporting Variantsnssv949370
Samples
Known GenesPCNT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587985
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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