A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682075



Internal ID21708396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194117086..194117086hg38UCSC Ensembl
chr3:193834875..193834875hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213770
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)nsv5682075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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