A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114649



Internal ID21297915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54925147..54933625hg38UCSC Ensembl
Innerchr16:54959059..54967537hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388479
hg198479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv439n145
Supporting Variantsnssv14099184
Samplessample171
Known GenesCRNDE, IRX5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114649
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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