A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678746



Internal ID21705067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123459639..123459639hg38UCSC Ensembl
chr3:123178486..123178486hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221723, nssv17211396
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)nsv5678746
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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