A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17229739



Internal ID21677248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120364654..120364654hg38UCSC Ensembl
chr3:120083501..120083501hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688151
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)nssv17229739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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