A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12992n54



Internal ID20146416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135689825..135725457hg38UCSC Ensembl
chr9:138581671..138617303hg19UCSC Ensembl
chr9:137721492..137757124hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3835633
hg1935633
hg1835633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615917, nsv615921
SamplesHGDP00789
Known GenesKCNT1, SOHLH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12992n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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