A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485393



Internal ID262783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18458949..18472429hg38UCSC Ensembl
chr10:18747878..18761358hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3813481
hg1913481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032567
Samples
Known GenesCACNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485393
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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