A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587677



Internal ID16028400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43405656..43418009hg38UCSC Ensembl
Innerchr21:44825536..44837889hg19UCSC Ensembl
Innerchr21:43649964..43662317hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3812354
hg1912354
hg1812354
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7870n54
Supporting Variantsnssv947428
Samples
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587677
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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