A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12991n54



Internal ID20146415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135689001..135752357hg38UCSC Ensembl
chr9:138580847..138644203hg19UCSC Ensembl
chr9:137720668..137784024hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3863357
hg1963357
hg1863357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615919, nsv615923, nsv615922, nsv615916
SamplesHGDP00977, HGDP01351
Known GenesKCNT1, SOHLH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12991n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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