A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5656289



Internal ID21604594
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 Variantsnssv17105102
SamplesHG00512
Known GenesPLA2G4C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5656289
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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