A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650045



Internal ID21598350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105745055..105745055hg38UCSC Ensembl
chr12:106138833..106138833hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077067
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650045
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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