A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518349



Internal ID294743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:86473525..86474784hg38UCSC Ensembl
chr16:86507131..86508390hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708395
Samples
Known GenesFENDRR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518349
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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