A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912755



Internal ID9244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52449023..52579094hg38UCSC Ensembl
chr2:52676161..52806232hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38130072
hg19130072
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436595
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912755
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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