A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216233



Internal ID20783273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60414101..60434400hg38UCSC Ensembl
chr5:59709928..59730227hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3820300
hg1920300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401868
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216233
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00067


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