A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675163



Internal ID21701484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141978055..141978055hg38UCSC Ensembl
chr3:141696897..141696897hg19UCSC Ensembl
Cytoband3q23
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 Variantsnssv17232172
Samples
Known GenesTFDP2
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)nsv5675163
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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