A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12994n54



Internal ID20146418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135711894..135789055hg38UCSC Ensembl
chr9:138603740..138680901hg19UCSC Ensembl
chr9:137743561..137820722hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3877162
hg1977162
hg1877162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615926, nsv615925
Samples
Known GenesKCNT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12994n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer