A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754352



Internal ID20530212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:282397..282397hg38UCSC Ensembl
chr19:282397..282397hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16280467
Samples
Known GenesPPAP2C
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754352
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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