A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11041n54



Internal ID22778936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166748083..166749719hg38UCSC Ensembl
chr6:167161571..167163207hg19UCSC Ensembl
chr6:167081561..167083197hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381637
hg191637
hg181637
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605262, nsv605265
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11041n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss2
Observed Complex0
Frequencyn/a


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