A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689191



Internal ID21715512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65267890..65267890hg38UCSC Ensembl
chr2:65495024..65495024hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205050
Samples
Known GenesACTR2
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)nsv5689191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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