A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17208572



Internal ID21656081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193295211..193295211hg38UCSC Ensembl
chr3:193013000..193013000hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693183
Supporting Variants
Samples
Known GenesATP13A5
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)nssv17208572
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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