A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179858



Internal ID20746898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109139301..109141700hg38UCSC Ensembl
chr13:109791649..109794048hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6495362
Supporting Variants
Samples
Known GenesMYO16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179858
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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