A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594551



Internal ID16035274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68567230..68614875hg38UCSC Ensembl
Innerchr4:69432948..69480593hg19UCSC Ensembl
Innerchr4:69115543..69163188hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3847646
hg1947646
hg1847646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002139
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594551
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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