A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987484



Internal ID59098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116896956..116897027hg38UCSC Ensembl
chr6:117218119..117218190hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463954
Supporting Variants
Samples
Known GenesRFX6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987484
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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