A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969331



Internal ID46876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125771888..125771947hg38UCSC Ensembl
chr6:126093034..126093093hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468941
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969331
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