A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117488



Internal ID21300754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54923747..54931863hg38UCSC Ensembl
Innerchr16:54957659..54965775hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388117
hg198117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14096485
Samplessample309
Known GenesCRNDE, IRX5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117488
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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