A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5661419



Internal ID21609724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128559106..128559106hg38UCSC Ensembl
chr12:129043651..129043651hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077743
SamplesHG03371
Known GenesTMEM132C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5661419
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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