A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697350



Internal ID21723671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26568550..26568550hg38UCSC Ensembl
chr22:26964515..26964515hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202090
Samples
Known GenesTPST2
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)nsv5697350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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