A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446239



Internal ID224564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43032973..43033113hg38UCSC Ensembl
chr3:43074465..43074605hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931948
Samples
Known GenesFAM198A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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