A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720806



Internal ID144472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5267440..5267951hg38UCSC Ensembl
chr19:5267451..5267962hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523928
Supporting Variants
Samples
Known GenesPTPRS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720806
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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