A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452242



Internal ID230402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:242502..1624696hg38UCSC Ensembl
chr3:284185..1666380hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381382195
hg191382196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926560
Samples
Known GenesCHL1, CNTN6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452242
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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