A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531839



Internal ID307783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51766365..51767538hg38UCSC Ensembl
chr16:51800276..51801449hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709017
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531839
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer