A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587682



Internal ID16028405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43409178..43447033hg38UCSC Ensembl
Innerchr21:44829058..44866913hg19UCSC Ensembl
Innerchr21:43653486..43691341hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3837856
hg1937856
hg1837856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7871n54
Supporting Variantsnssv947433, nssv947434
Samples
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587682
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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