A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920439



Internal ID14404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144639844..144639929hg38UCSC Ensembl
chr2:145397411..145397496hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442899
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920439
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