A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587952



Internal ID16028675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46128641..46162188hg38UCSC Ensembl
Innerchr21:47548555..47582102hg19UCSC Ensembl
Innerchr21:46372983..46406530hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3833548
hg1933548
hg1833548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949304
Samples
Known GenesCOL6A2, FTCD, SPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587952
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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