A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16961006



Internal ID41311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:171705936..171866464hg38UCSC Ensembl
chr4:172627087..172787615hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38160529
hg19160529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471918
Supporting Variants
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16961006
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