A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016462



Internal ID78630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128092107..128099359hg38UCSC Ensembl
chr8:129104353..129111605hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg387253
hg197253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487364
Supporting Variants
Samples
Known GenesPVT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016462
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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