A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449675



Internal ID227906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194491014..194494776hg38UCSC Ensembl
chr3:194211743..194215505hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383763
hg193763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944521
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449675
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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