A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538043



Internal ID313211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46715777..46715824hg38UCSC Ensembl
chr19:47219034..47219081hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723682
Samples
Known GenesPRKD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538043
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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