A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216597



Internal ID20783637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76790008..76839920hg38UCSC Ensembl
chr5:76085833..76135745hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3849913
hg1949913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397856
Supporting Variants
Samples
Known GenesF2RL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216597
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00089


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