A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697225



Internal ID120891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91046796..91046836hg38UCSC Ensembl
chr14:91513140..91513180hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425063
Supporting Variants
Samples
Known GenesRPS6KA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697225
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00359


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer