A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17228254



Internal ID21675763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57492647..57492647hg38UCSC Ensembl
chr20:56067703..56067703hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703430
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)nssv17228254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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