A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594508



Internal ID16035231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68499144..68614795hg38UCSC Ensembl
Innerchr4:69364862..69480513hg19UCSC Ensembl
Innerchr4:69047457..69163108hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38115652
hg19115652
hg18115652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9103n54
Supporting Variantsnssv1001804
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594508
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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