A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947420



Internal ID15894690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43419802hg38UCSC Ensembl
Innerchr21:44823479..44839682hg19UCSC Ensembl
Innerchr21:43647907..43664110hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3816204
hg1916204
hg1816204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587672
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)nssv947420
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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