A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523174



Internal ID299418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48024443..48029522hg38UCSC Ensembl
chr16:48058354..48063433hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg385080
hg195080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709401
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523174
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