A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438760



Internal ID217315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194214823..194216647hg38UCSC Ensembl
chr3:193932612..193934436hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381825
hg191825
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944490
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438760
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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