A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182591



Internal ID20749631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50116901..50203800hg38UCSC Ensembl
chr13:50691037..50777936hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3886900
hg1986900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487580
Supporting Variants
Samples
Known GenesDLEU2, ST13P4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182591
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00079


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