A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587954



Internal ID16028677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46162188..46183551hg38UCSC Ensembl
Innerchr21:47582102..47603465hg19UCSC Ensembl
Innerchr21:46406530..46427893hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3821364
hg1921364
hg1821364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949306
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587954
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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