A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721295



Internal ID144961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10230835..10231249hg38UCSC Ensembl
chr19:10341511..10341925hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527259
Supporting Variants
Samples
Known GenesS1PR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721295
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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