A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584654



Internal ID16372063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229871965..230035049hg38UCSC Ensembl
Innerchr2:230736681..230899765hg19UCSC Ensembl
Innerchr2:230444925..230608009hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38163085
hg19163085
hg18163085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7330n54
Supporting Variantsnssv933579
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)nsv584654
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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