A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936195



Internal ID22711546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53715842..53763296hg38UCSC Ensembl
chr19:54219096..54266550hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3847455
hg1947455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406066
Samples
Known GenesMIR1283-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518D, MIR518E, MIR519A1, MIR519A2, MIR520D, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR526A2, MIR527
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936195
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