A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17209235



Internal ID21656744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197825163..197825163hg38UCSC Ensembl
chr2:198689887..198689887hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685844
Supporting Variants
Samples
Known GenesPLCL1
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)nssv17209235
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