A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450889



Internal ID229083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47485433..47529811hg38UCSC Ensembl
chr3:47526923..47571301hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3844379
hg1944379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932960
Samples
Known GenesELP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450889
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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