A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554122



Internal ID327317
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 StatusM
Merged Variants
Supporting Variantsnssv17723679
Samples
Known GenesPRKD2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554122
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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