A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691379



Internal ID21717700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163627509..163627509hg38UCSC Ensembl
chr6:164048541..164048541hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180775, nssv17215310
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)nsv5691379
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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