A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683890



Internal ID21710211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144601456..144601456hg38UCSC Ensembl
chr6:144922592..144922592hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179872, nssv17228866
Samples
Known GenesUTRN
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)nsv5683890
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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