A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682683



Internal ID21709004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87222666..87222666hg38UCSC Ensembl
chr5:86518483..86518483hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212265
Samples
Known GenesLOC101929380
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)nsv5682683
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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