A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685410



Internal ID21711731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94898555..94898555hg38UCSC Ensembl
chr1:95364111..95364111hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175848
Samples
Known GenesCNN3
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)nsv5685410
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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