A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440027



Internal ID218551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48133809..48149105hg38UCSC Ensembl
chr3:48175299..48190595hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3815297
hg1915297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932674
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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