A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927054



Internal ID18746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236908345..236908449hg38UCSC Ensembl
chr2:237816988..237817092hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453085
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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