A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946143



Internal ID16240099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18685601..18702936hg38UCSC Ensembl
Innerchr21:20057919..20075254hg19UCSC Ensembl
Innerchr21:18979790..18997125hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3817336
hg1917336
hg1817336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587145
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946143
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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