A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941017



Internal ID22716434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9818126..9819491hg38UCSC Ensembl
chr19:9928802..9930167hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381366
hg191366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399028
Samples
Known GenesFBXL12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941017
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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