A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594059



Internal ID21542653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27734777..27736240hg38UCSC Ensembl
chr22:28130765..28132228hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381464
hg191464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123724
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594059
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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