A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706055



Internal ID21732376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35724123..35724123hg38UCSC Ensembl
chr22:36120170..36120170hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222844, nssv17204167
Samples
Known GenesAPOL5
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)nsv5706055
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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