A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190404



Internal ID21637913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16742727..16742727hg38UCSC Ensembl
chr11:16764274..16764274hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700328
Supporting Variants
Samples
Known GenesC11orf58
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)nssv17190404
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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