A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023638



Internal ID83471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:34229486..34231922hg38UCSC Ensembl
chr9:34229484..34231920hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg382437
hg192437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477847
Supporting Variants
Samples
Known GenesUBAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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