A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007054



Internal ID72317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:146000..462000hg38UCSC Ensembl
chr8:96000..412000hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38316001
hg19316001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485583
Supporting Variants
Samples
Known GenesFAM87A, FBXO25, OR4F21, RPL23AP53, ZNF596
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007054
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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