A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474783



Internal ID252434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128172429..128173936hg38UCSC Ensembl
chr9:130934708..130936215hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381508
hg191508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027294
Samples
Known GenesCIZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474783
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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