A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14099184



Internal ID21272046
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 StatusS
Merged Variantsnsv3114649
Supporting Variants
Samplessample171
Known GenesCRNDE, IRX5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14099184
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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