A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689428



Internal ID21715749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153709880..153709880hg38UCSC Ensembl
chr4:154631032..154631032hg19UCSC Ensembl
Cytoband4q31.3
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 Variantsnssv17174779
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)nsv5689428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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