A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6526447



Internal ID20899808
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 StatusM
Merged Variants
Supporting Variantsnssv18200211
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)nsv6526447
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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