A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930780



Internal ID22706052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47097864..47104047hg38UCSC Ensembl
chr19:47601121..47607304hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg386184
hg196184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391740
Samples
Known GenesZC3H4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930780
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