A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254027



Internal ID22058637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54885856..54885856hg38UCSC Ensembl
chr3:54919883..54919883hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854892
Samples
Known GenesCACNA2D3, CACNA2D3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254027
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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