A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681263



Internal ID21707584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63720880..63720880hg38UCSC Ensembl
chr6:64430776..64430776hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178375, nssv17223298
Samples
Known GenesEYS
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)nsv5681263
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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