A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193458



Internal ID21640967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36083033..36083033hg38UCSC Ensembl
chr13:36657170..36657170hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5699034
Supporting Variants
Samples
Known GenesDCLK1
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)nssv17193458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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