A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587846



Internal ID16375255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45427029..45479205hg38UCSC Ensembl
Innerchr21:46846944..46899119hg19UCSC Ensembl
Innerchr21:45671372..45723547hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852177
hg1952176
hg1852176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7901n54
Supporting Variantsnssv948533
Samples
Known GenesCOL18A1, MIR6815
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587846
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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