A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521862



Internal ID298142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54040604..54073772hg38UCSC Ensembl
chr19:54543858..54577024hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3833169
hg1933167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725479
Samples
Known GenesTARM1, VSTM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521862
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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