A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699034



Internal ID21725355
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 StatusM
Merged Variants
Supporting Variantsnssv17228449, nssv17193458
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)nsv5699034
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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