A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446247



Internal ID224572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17066675..17067039hg38UCSC Ensembl
chr3:17108167..17108531hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930524
Samples
Known GenesPLCL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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