A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223379



Internal ID21670888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69745981..69745981hg38UCSC Ensembl
chr14:70212698..70212698hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713898
Supporting Variants
Samples
Known Genes
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)nssv17223379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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