A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678804



Internal ID21705125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149020115..149020115hg38UCSC Ensembl
chr3:148737902..148737902hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210763, nssv17231635
Samples
Known GenesGYG1
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)nsv5678804
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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