A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587959



Internal ID16028682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46169399..46183988hg38UCSC Ensembl
Innerchr21:47589313..47603902hg19UCSC Ensembl
Innerchr21:46413741..46428330hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814590
hg1914590
hg1814590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7923n54
Supporting Variantsnssv949316
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587959
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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