A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008240



Internal ID73122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8707548..8743201hg38UCSC Ensembl
chr8:8565058..8600711hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835654
hg1935654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482555
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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