A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8248n54



Internal ID22776143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17339888..17497429hg38UCSC Ensembl
chr3:17381380..17538921hg19UCSC Ensembl
chr3:17356384..17513925hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38157542
hg19157542
hg18157542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589842, nsv589843
Samples
Known GenesTBC1D5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8248n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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