A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028118



Internal ID86442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129807303..129814738hg38UCSC Ensembl
chr9:132569582..132577017hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg387436
hg197436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488682
Supporting Variants
Samples
Known GenesTOR1A, TOR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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