A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496392



Internal ID273468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85267961..85276698hg38UCSC Ensembl
chr13:85842096..85850833hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg388738
hg198738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691532
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496392
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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