A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048592



Internal ID21957825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8643755..8643812hg38UCSC Ensembl
chr20:8624402..8624459hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17621593
Samples
Known GenesPLCB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048592
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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