A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561266



Internal ID22430048
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 Variantsnssv14291593, nssv14291596, nssv14291597, nssv14291595, nssv14291594
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesPLA2G4C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561266
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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