A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216472



Internal ID20783512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60189601..60228100hg38UCSC Ensembl
chr5:59485428..59523927hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3838500
hg1938500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401530
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216472
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00024


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