A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587674



Internal ID16028397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43438654hg38UCSC Ensembl
Innerchr21:44823479..44858534hg19UCSC Ensembl
Innerchr21:43647907..43682962hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3835056
hg1935056
hg1835056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7869n54
Supporting Variantsnssv947425
Samples
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587674
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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