A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914261



Internal ID10258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60056447..60061182hg38UCSC Ensembl
chr2:60283582..60288317hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384736
hg194736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450931
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914261
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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