A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518363



Internal ID294754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4155590..4155983hg38UCSC Ensembl
chr19:4155587..4155980hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720658
Samples
Known GenesCREB3L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518363
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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