A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115380



Internal ID21298646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40042966..40046267hg38UCSC Ensembl
Innerchr22:40438970..40442271hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736n145
Supporting Variantsnssv14103094
Samplessample310
Known GenesTNRC6B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115380
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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