A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705825



Internal ID129491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:33844411..34285600hg38UCSC Ensembl
chr16:33646878..34023150hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38441190
hg19376273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532201
Supporting Variants
Samples
Known GenesLINC00273
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705825
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002342


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