A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593114



Internal ID16380523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197066987..197183211hg38UCSC Ensembl
Innerchr3:196793858..196910082hg19UCSC Ensembl
Innerchr3:198278255..198394479hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38116225
hg19116225
hg18116225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153418
SamplesHGDP00529
Known GenesDLG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593114
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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