A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907919



Internal ID6063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111085737..111094188hg38UCSC Ensembl
chr1:111628359..111636810hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg388452
hg198452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428355
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907919
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