A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586853



Internal ID18885134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229846823..230040510hg38UCSC Ensembl
Innerchr2:230711539..230905226hg19UCSC Ensembl
Innerchr2:230419783..230613470hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38193688
hg19193688
hg18193688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002221
Supporting Variants
Samples
Known GenesFBXO36, SLC16A14, TRIP12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586853
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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