A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999654



Internal ID18812504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68795697..69266392hg38UCSC Ensembl
Innerchr4:69661415..70132110hg19UCSC Ensembl
Innerchr4:69696004..70166699hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38470696
hg19470696
hg18470696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3630229
Samples
Known GenesUGT2A3, UGT2B10, UGT2B11, UGT2B7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999654
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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