A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406066



Internal ID22463936
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 StatusS
Merged Variantsnsv5936195
Supporting Variants
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)nssv17406066
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