A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918920



Internal ID13385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140068708..140133727hg38UCSC Ensembl
chr2:140826277..140891296hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3865020
hg1965020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437226
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918920
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