A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199635



Internal ID20766675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55591301..55593900hg38UCSC Ensembl
chr19:56102667..56105266hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6520388
Supporting Variants
Samples
Known GenesFIZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199635
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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