A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981629



Internal ID55111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42408630..42413719hg38UCSC Ensembl
chr6:42376368..42381457hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385090
hg195090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462001
Supporting Variants
Samples
Known GenesTRERF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981629
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