A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12140n54



Internal ID22780035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:45927486..45991295hg38UCSC Ensembl
chr8:46839108..46902917hg19UCSC Ensembl
chr8:46958273..47022082hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3863810
hg1963810
hg1863810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611222, nsv611224, nsv611223
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12140n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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