A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690347



Internal ID21716668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58442428..58442428hg38UCSC Ensembl
chr3:58428155..58428155hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223172
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)nsv5690347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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