A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017551



Internal ID79350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122486222..122546222hg38UCSC Ensembl
chr8:123498461..123558461hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3860001
hg1960001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480248
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017551
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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