A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586858



Internal ID18885139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229854253..230037510hg38UCSC Ensembl
Innerchr2:230718969..230902226hg19UCSC Ensembl
Innerchr2:230427213..230610470hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38183258
hg19183258
hg18183258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014712
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)nssv3586858
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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