A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17173364



Internal ID21620879
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 StatusS
Merged Variantsnsv5677135
Supporting Variants
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)nssv17173364
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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