A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723679



Internal ID147345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46683957..46688032hg38UCSC Ensembl
chr19:47187214..47191289hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384076
hg194076
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554122
Supporting Variants
Samples
Known GenesPRKD2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723679
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000781


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