A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11053n54



Internal ID20144477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166772186..166946901hg38UCSC Ensembl
chr6:167185674..167360389hg19UCSC Ensembl
chr6:167105664..167280379hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38174716
hg19174716
hg18174716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605327, nsv605332
Samples
Known GenesRNASET2, RPS6KA2, RPS6KA2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11053n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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