A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519219



Internal ID295572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29629619..29638613hg38UCSC Ensembl
chr19:30120526..30129520hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg388995
hg198995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722662
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519219
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