A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200212



Internal ID20767252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53723043..53735714hg38UCSC Ensembl
chr19:54226297..54238968hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3812672
hg1912672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6531306
Supporting Variants
Samples
Known GenesMIR516B2, MIR518A1, MIR518D, MIR518E, MIR526A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200212
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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