A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947430



Internal ID15894700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43407646..43419273hg38UCSC Ensembl
Innerchr21:44827526..44839153hg19UCSC Ensembl
Innerchr21:43651954..43663581hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3811628
hg1911628
hg1811628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587679
Supporting Variants
Samples
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv947430
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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