A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17226068



Internal ID21673577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34965639..34965639hg38UCSC Ensembl
chr22:35361628..35361628hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711343
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)nssv17226068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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