A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983742



Internal ID56538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70937130..70948261hg38UCSC Ensembl
chr6:71646833..71657964hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3811132
hg1911132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473422
Supporting Variants
Samples
Known GenesB3GAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983742
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003123


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