A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516138



Internal ID292603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43685197..43704118hg38UCSC Ensembl
chr19:44189349..44208270hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3818922
hg1918922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725196
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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