A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249540



Internal ID22054150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99446791..99446791hg38UCSC Ensembl
chr13:100099045..100099045hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845549
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249540
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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