A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663452



Internal ID21611757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114874417..114874417hg38UCSC Ensembl
chr12:115312222..115312222hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077824, nssv17077823
SamplesHG00096, NA20847
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663452
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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