A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677135



Internal ID21703456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69611300..69611300hg38UCSC Ensembl
chr4:70477018..70477018hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212382, nssv17173364
Samples
Known GenesUGT2A1, UGT2A2
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)nsv5677135
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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