A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450152



Internal ID228369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85812289..85812362hg38UCSC Ensembl
chr3:85861439..85861512hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057991
Samples
Known GenesCADM2, CADM2-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450152
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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