A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486701



Internal ID264059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:92137840..92139121hg38UCSC Ensembl
chr10:93897597..93898878hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg381282
hg191282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036945
Samples
Known GenesCPEB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486701
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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