A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17226590



Internal ID21674099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111981087..111981087hg38UCSC Ensembl
chr11:111851812..111851812hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711783
Supporting Variants
Samples
Known GenesDIXDC1
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)nssv17226590
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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