A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714139



Internal ID137805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66306757..66306808hg38UCSC Ensembl
chr17:64302875..64302926hg19UCSC 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 Variantsnsv5422132
Supporting Variants
Samples
Known GenesPRKCA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714139
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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