A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248879



Internal ID22053489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32463938..32463938hg38UCSC Ensembl
chr13:33038075..33038075hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845155
Samples
Known GenesN4BP2L2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248879
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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