A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184473



Internal ID20751513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48344410..48460052hg38UCSC Ensembl
chr15:48636607..48752249hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38115643
hg19115643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6509138
Supporting Variants
Samples
Known GenesFBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184473
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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