A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947417



Internal ID15894687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43419273hg38UCSC Ensembl
Innerchr21:44823479..44839153hg19UCSC Ensembl
Innerchr21:43647907..43663581hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3815675
hg1915675
hg1815675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587671
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)nssv947417
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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