A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193541



Internal ID21641050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50006136..50006136hg38UCSC Ensembl
chr13:50580272..50580272hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713970
Supporting Variants
Samples
Known GenesDLEU2, TRIM13
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)nssv17193541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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