A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17232146



Internal ID21679655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103760109..103760109hg38UCSC Ensembl
chr14:104226446..104226446hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711801
Supporting Variants
Samples
Known GenesPPP1R13B
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)nssv17232146
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