A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594283



Internal ID21542880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52506516..52506854hg38UCSC Ensembl
chr14:52973234..52973572hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097276
SamplesHG00732
Known GenesTXNDC16
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594283
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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