A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942382



Internal ID22717819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53819551..53819600hg38UCSC Ensembl
chr19:54322805..54322854hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390533
Samples
Known GenesNLRP12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942382
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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