A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6046915



Internal ID21956149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32884452..32888469hg38UCSC Ensembl
chr19:33375358..33379375hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg384018
hg194018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17621505
Samples
Known GenesCEP89
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6046915
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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