A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243604



Internal ID22048214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:33339119..33339119hg38UCSC Ensembl
chr3:33380611..33380611hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853532
Samples
Known GenesFBXL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243604
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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