A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550263



Internal ID323837
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 StatusM
Merged Variants
Supporting Variantsnssv17724320
Samples
Known GenesPRKCG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550263
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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