A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533291



Internal ID309186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48904707..48912565hg38UCSC Ensembl
chr16:48938618..48946476hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg387859
hg197859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707826
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533291
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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