A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5128n54



Internal ID22773023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55760694..55784045hg38UCSC Ensembl
chr16:55794606..55817957hg19UCSC Ensembl
chr16:54352107..54375458hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3823352
hg1923352
hg1823352
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572638, nsv572648, nsv572644
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5128n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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