A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697282



Internal ID21723603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43972396..43972396hg38UCSC Ensembl
chr22:44368276..44368276hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217827, nssv17203799
Samples
Known GenesSAMM50
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)nsv5697282
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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