A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3630109



Internal ID18928390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68530194..68674295hg38UCSC Ensembl
Innerchr4:69395912..69540013hg19UCSC Ensembl
Innerchr4:69078507..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38144102
hg19144102
hg18144102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010569
Supporting Variants
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3630109
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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