A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686640



Internal ID110306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31151681..31314087hg38UCSC Ensembl
chr13:31725818..31888224hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38162407
hg19162407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501707
Supporting Variants
Samples
Known GenesB3GALTL, HSPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686640
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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