A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254024



Internal ID22058634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54230142..54230142hg38UCSC Ensembl
chr3:54264169..54264169hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854889
Samples
Known GenesCACNA2D3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254024
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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