A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514559



Internal ID291056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11336780..11340628hg38UCSC Ensembl
chr19:11447456..11451304hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383849
hg193849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721399
Samples
Known GenesRAB3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514559
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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