A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195522



Internal ID20762562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63518533..63531348hg38UCSC Ensembl
chr14:63985251..63998066hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3812816
hg1912816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485961
Supporting Variants
Samples
Known GenesPPP2R5E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195522
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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