A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981066



Internal ID54752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16438812..16438860hg38UCSC Ensembl
chr6:16439043..16439091hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538533
Supporting Variants
Samples
Known GenesATXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981066
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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