A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516520



Internal ID292974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54731269..54745625hg38UCSC Ensembl
chr16:54765181..54779537hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3814357
hg1914357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705948
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516520
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