A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286966



Internal ID22273137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18237694..18242476hg38UCSC Ensembl
chr19:18348504..18353286hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg384783
hg194783
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220137
Supporting Variants
SamplesNA19239
Known GenesPDE4C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286966
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer