A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693183



Internal ID21719504
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 StatusM
Merged Variants
Supporting Variantsnssv17231827, nssv17208572
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)nsv5693183
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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