A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200211



Internal ID20767251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53715843..53763561hg38UCSC Ensembl
chr19:54219097..54266815hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3847719
hg1947719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526447
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
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200211
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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