A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677496



Internal ID21703817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25777976..25777976hg38UCSC Ensembl
chr3:25819467..25819467hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218378, nssv17210329
Samples
Known GenesNGLY1
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)nsv5677496
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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