A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724320



Internal ID147986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53898930..53898933hg38UCSC Ensembl
chr19:54402184..54402187hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550263
Supporting Variants
Samples
Known GenesPRKCG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.061143


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