A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940786



Internal ID22716200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10369981..10370450hg38UCSC Ensembl
chr19:10480657..10481126hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402880
Samples
Known GenesTYK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940786
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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