A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594517



Internal ID16381926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68516362..68585585hg38UCSC Ensembl
Innerchr4:69382080..69451303hg19UCSC Ensembl
Innerchr4:69064675..69133898hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3869224
hg1969224
hg1869224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9102n54
Supporting Variantsnssv1001817
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594517
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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