A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587945



Internal ID16375354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46124649..46128576hg38UCSC Ensembl
Innerchr21:47544563..47548490hg19UCSC Ensembl
Innerchr21:46368991..46372918hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383928
hg193928
hg183928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7921n54
Supporting Variantsnssv949297
Samples
Known GenesCOL6A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587945
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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