A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449190



Internal ID227434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131351000..131408000hg38UCSC Ensembl
chr3:131069844..131126844hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3857001
hg1957001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937743
Samples
Known GenesLOC339874, NUDT16, NUDT16P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449190
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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