A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178780



Internal ID20745820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114150425..114331485hg38UCSC Ensembl
chr13:114915900..115096960hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38181061
hg19181061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491662
Supporting Variants
Samples
Known GenesCDC16, CHAMP1, UPF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178780
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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