A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115514



Internal ID21298780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70132279..70252461hg38UCSC Ensembl
Innerchr16:70166182..70286364hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38120183
hg19120183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14096412
Samplessample273
Known GenesAARS, CLEC18C, EXOSC6, LOC100506060, PDPR
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115514
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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