A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12855n54



Internal ID20146279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114048610..114104774hg38UCSC Ensembl
chr9:116810890..116867054hg19UCSC Ensembl
chr9:115850711..115906875hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3856165
hg1956165
hg1856165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615223, nsv615222, nsv615224, nsv615225
SamplesHGDP00604, HGDP00578, HGDP00734, HGDP00617, HGDP00559, HGDP00582, HGDP00567, HGDP00561, HGDP00606, HGDP00584, HGDP00573, HGDP00572
Known GenesAMBP, KIF12, ZNF618
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12855n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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