A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016446



Internal ID78619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127961208..127967668hg38UCSC Ensembl
chr8:128973454..128979914hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386461
hg196461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485143
Supporting Variants
Samples
Known GenesPVT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016446
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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