A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991357



Internal ID21900700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129426364..129446219hg38UCSC Ensembl
chr3:129145207..129165062hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3819856
hg1919856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17544887
Samples
Known GenesEFCAB12, IFT122, MBD4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991357
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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