A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747248



Internal ID20523265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190113796..190113977hg38UCSC Ensembl
chr3:189831585..189831766hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294690
Samples
Known GenesLEPREL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747248
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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