A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994096



Internal ID21903439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47505123..47505206hg38UCSC Ensembl
chr3:47546613..47546696hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17551936
Samples
Known GenesELP6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994096
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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