A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587946



Internal ID16375355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46124650..46126501hg38UCSC Ensembl
Innerchr21:47544564..47546415hg19UCSC Ensembl
Innerchr21:46368992..46370843hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381852
hg191852
hg181852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949298
Samples
Known GenesCOL6A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587946
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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