A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584963



Internal ID16372372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241567093..241567677hg38UCSC Ensembl
Innerchr2:242506508..242507092hg19UCSC Ensembl
Innerchr2:242155181..242155765hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38585
hg19585
hg18585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7392n54
Supporting Variantsnssv934723, nssv934722
Samples
Known GenesBOK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584963
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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