A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028532



Internal ID86719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121179387..121179517hg38UCSC Ensembl
chr9:123941665..123941795hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485367
Supporting Variants
Samples
Known GenesRAB14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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