A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111638



Internal ID21294904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54927310..54935533hg38UCSC Ensembl
Innerchr16:54961222..54969445hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388224
hg198224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv439n145
Supporting Variantsnssv14096374, nssv14096455, nssv14096465
Samplessample300, sample296, sample250
Known GenesCRNDE, IRX5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111638
Frequency
Sample Size467
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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