A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18047207



Internal ID20614247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1489101..1492100hg38UCSC Ensembl
chr19:1489100..1492099hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6535355
Supporting Variants
Samples
Known GenesPCSK4, REEP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18047207
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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