A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202092



Internal ID21649601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26790973..26790973hg38UCSC Ensembl
chr22:27186936..27186936hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694925
Supporting Variants
Samples
Known Genes
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)nssv17202092
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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