A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202640



Internal ID21650149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60180621..60180621hg38UCSC Ensembl
chr20:58755679..58755679hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710724
Supporting Variants
Samples
Known GenesLOC284757
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)nssv17202640
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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