A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587774



Internal ID16028497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44283777..44306907hg38UCSC Ensembl
Innerchr21:45703660..45726790hg19UCSC Ensembl
Innerchr21:44528088..44551218hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3823131
hg1923131
hg1823131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948315
Samples
Known GenesAIRE, PFKL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587774
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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