A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924389



Internal ID17030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204716608..204716782hg38UCSC Ensembl
chr2:205581331..205581505hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445079
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924389
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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