A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221094



Internal ID21668603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233767249..233767249hg38UCSC Ensembl
chr2:234675895..234675895hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5687108
Supporting Variants
Samples
Known GenesUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)nssv17221094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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