A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594611



Internal ID16382020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69396028..69518273hg38UCSC Ensembl
Innerchr4:70261746..70383991hg19UCSC Ensembl
Innerchr4:70296335..70418580hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38122246
hg19122246
hg18122246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152927
SamplesHGDP00058
Known GenesUGT2B4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594611
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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