A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765215



Internal ID20541075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116277326..116277326hg38UCSC Ensembl
chr12:116715131..116715131hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282640
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765215
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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