A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992142



Internal ID21901485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17522592..17531467hg38UCSC Ensembl
chr3:17564084..17572959hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg388876
hg198876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17547651
Samples
Known GenesTBC1D5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992142
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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