A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184106



Internal ID20751146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:57561601..57647400hg38UCSC Ensembl
chr13:58135735..58221534hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3885800
hg1985800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494089
Supporting Variants
Samples
Known GenesPCDH17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184106
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00079


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