A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496478



Internal ID273553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73323853..73323996hg38UCSC Ensembl
chr13:73897990..73898133hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693164
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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