A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586854



Internal ID18885135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229849309..230013133hg38UCSC Ensembl
Innerchr2:230714025..230877849hg19UCSC Ensembl
Innerchr2:230422269..230586093hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38163825
hg19163825
hg18163825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014621
Supporting Variants
Samples
Known GenesFBXO36, TRIP12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586854
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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