A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486696



Internal ID21144249
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 StatusM
Merged Variants
Supporting Variantsnssv18182396
Samples
Known GenesPRPF39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486696
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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