A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721696



Internal ID145362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14441598..14441745hg38UCSC Ensembl
chr19:14552410..14552557hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531664
Supporting Variants
Samples
Known GenesPKN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721696
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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