A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181020



Internal ID20748060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72889238..73137896hg38UCSC Ensembl
chr14:73355946..73604604hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38248659
hg19248659
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6486842
Supporting Variants
Samples
Known GenesDCAF4, DPF3, PSEN1, RBM25, ZFYVE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181020
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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