A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv934721



Internal ID16228677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241566831..241567677hg38UCSC Ensembl
Innerchr2:242506246..242507092hg19UCSC Ensembl
Innerchr2:242154919..242155765hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38847
hg19847
hg18847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584962
Supporting Variants
Samples
Known GenesBOK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv934721
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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