A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933576



Internal ID15880846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229820254..230078735hg38UCSC Ensembl
Innerchr2:230684970..230943451hg19UCSC Ensembl
Innerchr2:230393214..230651695hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38258482
hg19258482
hg18258482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584650
Supporting Variants
Samples
Known GenesFBXO36, SLC16A14, TRIP12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933576
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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