A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532593



Internal ID308512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16149437..16169997hg38UCSC Ensembl
chr19:16260247..16280808hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3820561
hg1920562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721841
Samples
Known GenesCIB3, HSH2D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532593
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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