A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6054872



Internal ID21964105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4440960..4458713hg38UCSC Ensembl
chr19:4440957..4458710hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3817754
hg1917754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17626190
Samples
Known GenesCHAF1A, MIR4746, UBXN6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6054872
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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