A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586855



Internal ID18885136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229849309..230035273hg38UCSC Ensembl
Innerchr2:230714025..230899989hg19UCSC Ensembl
Innerchr2:230422269..230608233hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38185965
hg19185965
hg18185965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013220
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)nssv3586855
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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