A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222746



Internal ID20789786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45092423..45093298hg38UCSC Ensembl
chr14:45561626..45562501hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6588110
Supporting Variants
Samples
Known GenesPRPF39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222746
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00018


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