A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198894



Internal ID20765934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45652348..45724710hg38UCSC Ensembl
chr19:46155606..46227968hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3872363
hg1972363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6535203
Supporting Variants
Samples
Known GenesFBXO46, GIPR, MIR642A, MIR642B, QPCTL, SNRPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198894
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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