A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700989



Internal ID21727310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35856087..35856087hg38UCSC Ensembl
chr13:36430224..36430224hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193455
Samples
Known GenesDCLK1, MIR548F5
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)nsv5700989
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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