A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021368



Internal ID20588408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80893411..80893932hg38UCSC Ensembl
chr14:81359755..81360276hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6486729
Supporting Variants
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021368
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00081


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