A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754896



Internal ID20530756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134538539..134538539hg38UCSC Ensembl
chr3:134257381..134257381hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275057
Samples
Known GenesCEP63
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754896
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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