A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442811



Internal ID221225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184020181..184031273hg38UCSC Ensembl
chr3:183737969..183749061hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3811093
hg1911093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943301
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442811
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer