A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488787



Internal ID266083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128799869..128813129hg38UCSC Ensembl
chr9:131562148..131575408hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3813261
hg1913261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028850
Samples
Known GenesTBC1D13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488787
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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