A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217827



Internal ID21665336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43972396..43972396hg38UCSC Ensembl
chr22:44368276..44368276hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697282
Supporting Variants
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)nssv17217827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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