A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11043n54



Internal ID22778938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166748083..166752298hg38UCSC Ensembl
chr6:167161571..167165786hg19UCSC Ensembl
chr6:167081561..167085776hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384216
hg194216
hg184216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605267, nsv605279
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11043n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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