A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983733



Internal ID56530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70869242..70869321hg38UCSC Ensembl
chr6:71578945..71579024hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469168
Supporting Variants
Samples
Known GenesB3GAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983733
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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