A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450483



Internal ID228689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134150233..134154976hg38UCSC Ensembl
chr3:133869077..133873820hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg384744
hg194744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937807
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450483
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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