A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6078493



Internal ID21987726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193645099..193645099hg38UCSC Ensembl
chr3:193362888..193362888hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543215
Samples
Known GenesOPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6078493
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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