A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527229



Internal ID303332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75013387..75051639hg38UCSC Ensembl
chr16:75047285..75085537hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3838253
hg1938253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708288
Samples
Known GenesZNRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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