A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418112



Internal ID197293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:91242251..91242302hg38UCSC Ensembl
chr13:91894505..91894556hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694390
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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