A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703515



Internal ID21729836
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 StatusM
Merged Variants
Supporting Variantsnssv17201131
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)nsv5703515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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