A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689529



Internal ID21715850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14463839..14463839hg38UCSC Ensembl
chr6:14464070..14464070hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222672, nssv17179190
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)nsv5689529
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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