A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137745



Internal ID21459328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48341751..48341804hg38UCSC Ensembl
chr22:48737563..48737616hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5589982
Supporting Variants
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17137745
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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