A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680851



Internal ID21707172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127456854..127456854hg38UCSC Ensembl
chr6:127777999..127777999hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179654, nssv17225064
Samples
Known GenesKIAA0408, SOGA3
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)nsv5680851
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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