A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948223



Internal ID15895493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44209682..44429981hg38UCSC Ensembl
Innerchr21:45629565..45849864hg19UCSC Ensembl
Innerchr21:44453993..44674292hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38220300
hg19220300
hg18220300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587740
Supporting Variants
Samples
Known GenesAIRE, C21orf2, DNMT3L, ICOSLG, PFKL, TRPM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948223
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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