A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421115



Internal ID200203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43566081..43566132hg38UCSC Ensembl
chr13:44140217..44140268hg19UCSC Ensembl
Cytoband13q14.11
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 Variantsnssv17687301
Samples
Known GenesENOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421115
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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