A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007050



Internal ID72315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60000..126000hg38UCSC Ensembl
chr8:10001..76000hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3866001
hg1966000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142355
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007050
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004742


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