A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217563



Internal ID21665072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29833299..29833299hg38UCSC Ensembl
chr22:30229288..30229288hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697099
Supporting Variants
Samples
Known GenesASCC2
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)nssv17217563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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