A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679678



Internal ID21705999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22332581..22332581hg38UCSC Ensembl
chr4:22334204..22334204hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225633, nssv17211779
Samples
Known GenesLOC100505912
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)nsv5679678
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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