A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584652



Internal ID16372061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229859061..230036931hg38UCSC Ensembl
Innerchr2:230723777..230901647hg19UCSC Ensembl
Innerchr2:230432021..230609891hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38177871
hg19177871
hg18177871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7330n54
Supporting Variantsnssv933578
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)nsv584652
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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