A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942354



Internal ID22717791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81799804..81802318hg38UCSC Ensembl
chr16:81833409..81835923hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg382515
hg192515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382077
Samples
Known GenesPLCG2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942354
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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