A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019747



Internal ID80805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134717365..134717477hg38UCSC Ensembl
chr8:135729608..135729720hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474945
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019747
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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