A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689168



Internal ID21715489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93623781..93623781hg38UCSC Ensembl
chr1:94089338..94089338hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175831
Samples
Known GenesBCAR3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5689168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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