A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17213867



Internal ID21661376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53613709..53613709hg38UCSC Ensembl
chr20:52230248..52230248hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709570
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)nssv17213867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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