A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17224872



Internal ID21672381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170718614..170718614hg38UCSC Ensembl
chr3:170436403..170436403hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677729
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)nssv17224872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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