A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182396



Internal ID20749436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45075401..45087800hg38UCSC Ensembl
chr14:45544604..45557003hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3812400
hg1912400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6486696
Supporting Variants
Samples
Known GenesPRPF39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182396
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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