A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584959



Internal ID16025682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241563227..241567855hg38UCSC Ensembl
Innerchr2:242502642..242507270hg19UCSC Ensembl
Innerchr2:242151315..242155943hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384629
hg194629
hg184629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7390n54
Supporting Variantsnssv934621, nssv934622
Samples
Known GenesBOK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584959
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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