A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527461



Internal ID303561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29289987..29293025hg38UCSC Ensembl
chr16:29301308..29304346hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383039
hg193039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708048
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527461
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