A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440492



Internal ID218996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29990260..29990315hg38UCSC Ensembl
chr3:30031751..30031806hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931364
Samples
Known GenesRBMS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440492
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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