A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711251



Internal ID134917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8210520..8210636hg38UCSC Ensembl
chr17:8113838..8113954hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530490
Supporting Variants
Samples
Known GenesAURKB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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