A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599279



Internal ID21547913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80042160..80044757hg38UCSC Ensembl
chr12:80435940..80438537hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382598
hg192598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17080820
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599279
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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