A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965337



Internal ID22740273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17636020..17646732hg38UCSC Ensembl
chr22:18118786..18129498hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3810713
hg1910713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391290
Samples
Known GenesBCL2L13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965337
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