A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598423



Internal ID21547050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65559536..65559597hg38UCSC Ensembl
chr14:66026254..66026315hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17087977
SamplesHG02818
Known GenesFUT8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598423
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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