A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930413



Internal ID22705680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55672895..55673170hg38UCSC Ensembl
chr19:56184261..56184536hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398196
Samples
Known GenesU2AF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930413
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