A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433995



Internal ID212686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:117280361..117283735hg38UCSC Ensembl
chr3:116999208..117002582hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936500
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433995
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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