A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942600



Internal ID22718040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8644365..8644440hg38UCSC Ensembl
chr20:8625012..8625087hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409069
Samples
Known GenesPLCB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942600
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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