A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016325



Internal ID78535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113604000..113612222hg38UCSC Ensembl
chr8:114616229..114624451hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg388223
hg198223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490657
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016325
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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