A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682783



Internal ID21709104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:16249106..16249106hg38UCSC Ensembl
chr4:16250729..16250729hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223084
Samples
Known GenesTAPT1-AS1
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)nsv5682783
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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