A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720262



Internal ID143928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1520500..1544000hg38UCSC Ensembl
chr19:1520499..1543999hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3823501
hg1923501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516489
Supporting Variants
Samples
Known GenesPLK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720262
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000339


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