A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201131



Internal ID21648640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17068673..17068673hg38UCSC Ensembl
chr22:17549563..17549563hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703515
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)nssv17201131
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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