A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17224190



Internal ID21671699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9812778..9812778hg38UCSC Ensembl
chr19:9923454..9923454hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697963
Supporting Variants
Samples
Known GenesFBXL12
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)nssv17224190
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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