A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680347



Internal ID21706668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:164407409..164407409hg38UCSC Ensembl
chr6:164828442..164828442hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220965, nssv17180787
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)nsv5680347
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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