A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981072



Internal ID54757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16471728..16475322hg38UCSC Ensembl
chr6:16471959..16475553hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg383595
hg193595
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562617
Supporting Variants
Samples
Known GenesATXN1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981072
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer