A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690216



Internal ID21716537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57253160..57253160hg38UCSC Ensembl
chr3:57287188..57287188hg19UCSC Ensembl
Cytoband3p14.3
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 Variantsnssv17219835
Samples
Known GenesAPPL1
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)nsv5690216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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