A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594070



Internal ID21542664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35389326..35389406hg38UCSC Ensembl
chr22:35785319..35785399hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137467
SamplesHG00513
Known GenesHMOX1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594070
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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