A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17227121



Internal ID21674630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129019793..129019793hg38UCSC Ensembl
chr9:131782072..131782072hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713220
Supporting Variants
Samples
Known GenesSH3GLB2
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)nssv17227121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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