A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17188891



Internal ID21636400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:95239129..95239129hg38UCSC Ensembl
chr10:96998886..96998886hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703904
Supporting Variants
Samples
Known GenesPDLIM1
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)nssv17188891
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