A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928474



Internal ID19689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228423618..228442000hg38UCSC Ensembl
chr2:229288334..229306716hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3818383
hg1918383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438938
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928474
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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