A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016428



Internal ID78606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127760504..127760582hg38UCSC Ensembl
chr8:128772750..128772828hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479717
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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