A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011841



Internal ID75560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67585025..67585083hg38UCSC Ensembl
chr8:68497260..68497318hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141766
Supporting Variants
Samples
Known GenesCPA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011841
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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