A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922299



Internal ID15624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172526656..172527872hg38UCSC Ensembl
chr2:173391384..173392600hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453348
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922299
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00359


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