A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495275



Internal ID272394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:86028857..86092998hg38UCSC Ensembl
chr13:86602992..86667133hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3864142
hg1964142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692506
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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