A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937116



Internal ID22712479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18179582..18201071hg38UCSC Ensembl
chr19:18290392..18311881hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3821490
hg1921490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392353
Samples
Known GenesMPV17L2, RAB3A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937116
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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