A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594533



Internal ID16381942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68528033..68637963hg38UCSC Ensembl
Innerchr4:69393751..69503681hg19UCSC Ensembl
Innerchr4:69076346..69186276hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38109931
hg19109931
hg18109931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9103n54
Supporting Variantsnssv1001968
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594533
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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