A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946148



Internal ID16240104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18685601..18706106hg38UCSC Ensembl
Innerchr21:20057919..20078424hg19UCSC Ensembl
Innerchr21:18979790..19000295hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3820506
hg1920506
hg1820506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587147
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)nssv946148
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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