A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704144



Internal ID127810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89842818..89846804hg38UCSC Ensembl
chr15:90386050..90390036hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg383987
hg193987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522309
Supporting Variants
Samples
Known GenesAP3S2, C15orf38-AP3S2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704144
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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