A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017109



Internal ID79066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124453346..124461923hg38UCSC Ensembl
chr8:125465587..125474164hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg388578
hg198578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476356
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017109
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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