A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12993n54



Internal ID22780888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135698139..135761806hg38UCSC Ensembl
chr9:138589985..138653652hg19UCSC Ensembl
chr9:137729806..137793473hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3863668
hg1963668
hg1863668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615920, nsv615924
SamplesNINDS_60
Known GenesKCNT1, SOHLH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12993n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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