A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910014



Internal ID7454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10456031..10456083hg38UCSC Ensembl
chr2:10596157..10596209hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438981
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910014
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