A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964154



Internal ID43419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31940684..31943779hg38UCSC Ensembl
chr5:31940790..31943885hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg383096
hg193096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463582
Supporting Variants
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964154
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