A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593999



Internal ID21542592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93722007..93722146hg38UCSC Ensembl
chr14:94188353..94188492hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088442
SamplesHG00731
Known GenesPRIMA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593999
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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