A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223084



Internal ID21670593
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 StatusS
Merged Variantsnsv5682783
Supporting Variants
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)nssv17223084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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