A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907836



Internal ID6003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108217637..108554718hg38UCSC Ensembl
chr1:108760259..109097340hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38337082
hg19337082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431437
Supporting Variants
Samples
Known GenesNBPF4, NBPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907836
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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