A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923869



Internal ID16677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217993826..217993924hg38UCSC Ensembl
chr2:218858549..218858647hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453561
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923869
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