A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555746



Internal ID22424584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48110530..48110530hg38UCSC Ensembl
chr19:48613787..48613787hg19UCSC 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 Variantsnssv14421135
SamplesHG00514
Known GenesPLA2G4C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555746
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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