A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254663



Internal ID22059273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129199719..129199719hg38UCSC Ensembl
chr3:128918562..128918562hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854471
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254663
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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