A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720805



Internal ID144471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5252298..5252607hg38UCSC Ensembl
chr19:5252309..5252618hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519570
Supporting Variants
Samples
Known GenesPTPRS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720805
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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