A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017358



Internal ID79219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:115475690..115476334hg38UCSC Ensembl
chr8:116487917..116488561hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475475
Supporting Variants
Samples
Known GenesTRPS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017358
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.179076


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