A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv439n145



Internal ID22813455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54925147..54935533hg38UCSC Ensembl
chr16:54959059..54969445hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3810387
hg1910387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3111579, nsv3111638, nsv3115214, nsv3114649, nsv3113600, nsv3111224
Samplessample171, sample263, sample300, sample378, sample372, sample296, sample250, sample275
Known GenesCRNDE, IRX5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv439n145
Frequency
Sample Size467
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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