A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12860n54



Internal ID20146284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114283521..114343856hg38UCSC Ensembl
chr9:117045801..117106136hg19UCSC Ensembl
chr9:116085622..116145957hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3860336
hg1960336
hg1860336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615241, nsv615242, nsv615243
SamplesHGDP00617, HGDP00578, HGDP00600, HGDP00734, HGDP00582, HGDP00573, HGDP00584, HGDP00604, HGDP00572, HGDP00567
Known GenesAKNA, COL27A1, ORM1, ORM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12860n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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