A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519903



Internal ID296244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14664252..14665552hg38UCSC Ensembl
chr16:14758109..14759409hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706462
Samples
Known GenesBFAR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519903
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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