A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186911



Internal ID20753951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47674201..47676600hg38UCSC Ensembl
chr14:48143404..48145803hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490210
Supporting Variants
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186911
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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