A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190254



Internal ID21637763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1908331..1908331hg38UCSC Ensembl
chr11:1929561..1929561hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704370
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)nssv17190254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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