A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17198794



Internal ID21646303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55183827..55183827hg38UCSC Ensembl
chr16:55217739..55217739hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697404
Supporting Variants
Samples
Known Genes
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)nssv17198794
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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