A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587859



Internal ID16028582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45509353..45514326hg38UCSC Ensembl
Innerchr21:46929267..46934240hg19UCSC Ensembl
Innerchr21:45753695..45758668hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384974
hg194974
hg184974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948542
Samples
Known GenesCOL18A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587859
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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