A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5653285



Internal ID21601590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43337198..43337198hg38UCSC Ensembl
chr12:43731001..43731001hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092067
SamplesHG01114
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5653285
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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