A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599839



Internal ID21548476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42896342..42896399hg38UCSC Ensembl
chr22:43292348..43292405hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17122517
SamplesHG00731
Known GenesPACSIN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599839
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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