A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754645



Internal ID20530505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962045..179962045hg38UCSC Ensembl
chr3:179679833..179679833hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274528
Samples
Known GenesPEX5L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754645
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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