A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587671



Internal ID16028394
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 StatusM
Merged Variantsdgv7868n54
Supporting Variantsnssv947417, nssv947415, nssv947419, nssv1152418, nssv947418, nssv947414, nssv947416
SamplesHGDP00610
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587671
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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