A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17213544



Internal ID21661053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138541610..138541610hg38UCSC Ensembl
chr3:138260452..138260452hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678332
Supporting Variants
Samples
Known GenesCEP70
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)nssv17213544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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