A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584960



Internal ID16372369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241566780..241567462hg38UCSC Ensembl
Innerchr2:242506195..242506877hg19UCSC Ensembl
Innerchr2:242154868..242155550hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38683
hg19683
hg18683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv934623
Samples
Known GenesBOK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584960
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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