A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488682



Internal ID265982
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 StatusM
Merged Variants
Supporting Variantsnssv17028118
Samples
Known GenesTOR1A, TOR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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