A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258447



Internal ID22063057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125245391..125245391hg38UCSC Ensembl
chr11:125115287..125115287hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844654
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258447
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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