A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931374



Internal ID22706657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69344489..69344745hg38UCSC Ensembl
chr16:69378392..69378648hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387253
Samples
Known GenesTMED6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931374
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