A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704147



Internal ID127813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89855800..89869000hg38UCSC Ensembl
chr15:90399032..90412232hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3813201
hg1913201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522291
Supporting Variants
Samples
Known GenesAP3S2, C15orf38-AP3S2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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