A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594553



Internal ID16381962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68567561..68624885hg38UCSC Ensembl
Innerchr4:69433279..69490603hg19UCSC Ensembl
Innerchr4:69115874..69173198hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3857325
hg1957325
hg1857325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9110n54
Supporting Variantsnssv1002141
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594553
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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