A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12046n54



Internal ID20145470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18223142..18409264hg38UCSC Ensembl
chr8:18080651..18266774hg19UCSC Ensembl
chr8:18124931..18311054hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38186123
hg19186124
hg18186124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610716, nsv610715
Samples
Known GenesNAT1, NAT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12046n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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