A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753871



Internal ID20529731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49468618..49468618hg38UCSC Ensembl
chr13:50042754..50042754hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16260589
Samples
Known GenesSETDB2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753871
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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