A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249533



Internal ID22054143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98707091..98707091hg38UCSC Ensembl
chr13:99359345..99359345hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845541
Samples
Known GenesSLC15A1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249533
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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