A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646720



Internal ID21595025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116800861..116800861hg38UCSC Ensembl
chr12:117238666..117238666hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077250
SamplesNA19983
Known GenesRNFT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646720
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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