A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213495



Internal ID20780535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41922601..41931400hg38UCSC Ensembl
chr5:41922703..41931502hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387342
Supporting Variants
Samples
Known GenesFBXO4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213495
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00026


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