A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513384



Internal ID289910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28595542..28605531hg38UCSC Ensembl
chr14:29064748..29074737hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg389990
hg199990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695429
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513384
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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