A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994082



Internal ID21903425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:78707017..78711006hg38UCSC Ensembl
chr3:78756167..78760156hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg383990
hg193990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17556990
Samples
Known GenesROBO1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994082
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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