A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907996



Internal ID6116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109607564..109608429hg38UCSC Ensembl
chr1:110150186..110151051hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430046
Supporting Variants
Samples
Known GenesGNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907996
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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