A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441245



Internal ID219726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85339181..85426229hg38UCSC Ensembl
chr3:85388331..85475379hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3887049
hg1987049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936312
Samples
Known GenesCADM2, MIR5688
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441245
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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