A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520548



Internal ID296874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52289775..52335073hg38UCSC Ensembl
chr19:52793028..52838326hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3845299
hg1945299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724158
Samples
Known GenesZNF480, ZNF766
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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