A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8530n54



Internal ID22776425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123448402..123452433hg38UCSC Ensembl
chr3:123167249..123171280hg19UCSC Ensembl
chr3:124649939..124653970hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg384032
hg194032
hg184032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591427, nsv591416
Samples
Known GenesADCY5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8530n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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