A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186410



Internal ID20753450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100501625..100503242hg38UCSC Ensembl
chr13:101153879..101155496hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483113
Supporting Variants
Samples
Known GenesPCCA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186410
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer