A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596983



Internal ID21545593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36455643..36456859hg38UCSC Ensembl
chr22:36851690..36852906hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121265
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596983
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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