A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17133453



Internal ID21485593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17147251..17147312hg38UCSC Ensembl
chr22:17628141..17628202hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5586060
Supporting Variants
SamplesNA12878
Known GenesCECR5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17133453
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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