A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993471



Internal ID21902814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45543241..45543299hg38UCSC Ensembl
chr3:45584733..45584791hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550342
Samples
Known GenesLARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993471
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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