A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12451n54



Internal ID22780346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:290670..543631hg38UCSC Ensembl
chr9:290670..543631hg19UCSC Ensembl
chr9:280670..533631hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38252962
hg19252962
hg18252962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612999, nsv613012, nsv613013
Samples
Known GenesDOCK8, KANK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12451n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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