A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17222302



Internal ID21669811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100577589..100577589hg38UCSC Ensembl
chr9:103339871..103339871hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706628
Supporting Variants
Samples
Known GenesMSANTD3-TMEFF1, TMEFF1
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)nssv17222302
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