A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518051



Internal ID294448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30387237..30390876hg38UCSC Ensembl
chr16:30398558..30402197hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383640
hg193640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707676
Samples
Known GenesZNF48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518051
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