A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17196979



Internal ID21644488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92163374..92163374hg38UCSC Ensembl
chr14:92629718..92629718hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713598
Supporting Variants
Samples
Known GenesCPSF2
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)nssv17196979
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