A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515681



Internal ID292158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48797676..48798864hg38UCSC Ensembl
chr19:49300933..49302121hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723916
Samples
Known GenesBCAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515681
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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