A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526238



Internal ID302376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53796583..53823057hg38UCSC Ensembl
chr19:54299837..54326311hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3826475
hg1926475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724301
Samples
Known GenesNLRP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526238
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