A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190003



Internal ID21637512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46186083..46186083hg38UCSC Ensembl
chr11:46207634..46207634hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706095
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)nssv17190003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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