A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513455



Internal ID289980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106505523..106505663hg38UCSC Ensembl
chr13:107157871..107158011hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692325
Samples
Known GenesEFNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513455
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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