A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023508



Internal ID83389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33113873..33113940hg38UCSC Ensembl
chr9:33113871..33113938hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485709
Supporting Variants
Samples
Known GenesB4GALT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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