A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974369



Internal ID22749304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48110531..48110531hg38UCSC Ensembl
chr19:48613788..48613788hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407905
Samples
Known GenesPLA2G4C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974369
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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