A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591729



Internal ID16379138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:131984537..131994298hg38UCSC Ensembl
Innerchr3:131703381..131713142hg19UCSC Ensembl
Innerchr3:133186071..133195832hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg389762
hg199762
hg189762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8591n54
Supporting Variantsnssv973616
Samples
Known GenesCPNE4, MIR5704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591729
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer