A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523463



Internal ID299696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48951515..48951787hg38UCSC Ensembl
chr16:48985426..48985698hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707834
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523463
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