A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254130



Internal ID22058740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65383712..65383712hg38UCSC Ensembl
chr3:65369387..65369387hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855677
Samples
Known GenesMAGI1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254130
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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