A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720853



Internal ID144519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5714540..5714853hg38UCSC Ensembl
chr19:5714551..5714864hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517873
Supporting Variants
Samples
Known GenesLONP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720853
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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