A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923989



Internal ID16750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224225413..224230678hg38UCSC Ensembl
chr2:225090130..225095395hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg385266
hg195266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440193
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923989
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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