A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587488



Internal ID16374897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40080107..40105280hg38UCSC Ensembl
Innerchr21:41452034..41477207hg19UCSC Ensembl
Innerchr21:40373904..40399077hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3825174
hg1925174
hg1825174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152406
SamplesHGDP01000
Known GenesDSCAM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587488
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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