A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217844



Internal ID21665353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194411538..194411538hg38UCSC Ensembl
chr3:194132267..194132267hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678214
Supporting Variants
Samples
Known GenesATP13A3
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)nssv17217844
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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