A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017381



Internal ID79235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116766791..116770189hg38UCSC Ensembl
chr8:117779030..117782428hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg383399
hg193399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483048
Supporting Variants
Samples
Known GenesUTP23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017381
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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