A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259794



Internal ID22064404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149894552..149894552hg38UCSC Ensembl
chr3:149612339..149612339hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855846
Samples
Known GenesRNF13
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259794
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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