A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17214668



Internal ID21662177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109027251..109027251hg38UCSC Ensembl
chr9:111789531..111789531hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703681
Supporting Variants
Samples
Known GenesTMEM245
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)nssv17214668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer