A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679332



Internal ID21705653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143443884..143443884hg38UCSC Ensembl
chr3:143162726..143162726hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210023, nssv17228033
Samples
Known GenesSLC9A9
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)nsv5679332
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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