A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011104



Internal ID75049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28643046..28643125hg38UCSC Ensembl
chr8:28500563..28500642hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482260
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011104
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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