A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715499



Internal ID139165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66805506..66805557hg38UCSC Ensembl
chr17:64801624..64801675hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426431
Supporting Variants
Samples
Known GenesPRKCA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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