A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17222026



Internal ID21669535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270517..30270517hg38UCSC Ensembl
chr13:30844654..30844654hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708242
Supporting Variants
Samples
Known GenesKATNAL1
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)nssv17222026
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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