A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391290



Internal ID22449160
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 StatusS
Merged Variantsnsv5965337
Supporting Variants
Samples
Known GenesBCL2L13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391290
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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