A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942303



Internal ID22717739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83661886..83664077hg38UCSC Ensembl
chr16:83695491..83697682hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg382192
hg192192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374976
Samples
Known GenesCDH13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942303
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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