A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527294



Internal ID303394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18462164..18462263hg38UCSC Ensembl
chr19:18572974..18573073hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722027
Samples
Known GenesELL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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