A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12990n54



Internal ID20146414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135667037..135710382hg38UCSC Ensembl
chr9:138558883..138602228hg19UCSC Ensembl
chr9:137698704..137742049hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3843346
hg1943346
hg1843346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615915, nsv615914, nsv615913
Samples
Known GenesKCNT1, SOHLH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12990n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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