A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202150



Internal ID21649659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30819544..30819544hg38UCSC Ensembl
chr22:31215531..31215531hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704212
Supporting Variants
Samples
Known GenesOSBP2
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)nssv17202150
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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