A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451186



Internal ID229372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107691574..107700400hg38UCSC Ensembl
chr3:107410421..107419247hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg388827
hg198827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937912
Samples
Known GenesBBX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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