A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599462



Internal ID21548096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112581581..112582642hg38UCSC Ensembl
chr12:113019385..113020446hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077419
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599462
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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