A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686645



Internal ID110311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31302106..31308106hg38UCSC Ensembl
chr13:31876243..31882243hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143850
Supporting Variants
Samples
Known GenesB3GALTL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686645
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01339


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