A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723682



Internal ID147348
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 StatusS
Merged Variantsnsv5538043
Supporting Variants
Samples
Known GenesPRKD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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