A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287580



Internal ID22263615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44709109..44709928hg38UCSC Ensembl
chr19:45212381..45213200hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214951
Supporting Variants
SamplesNA19238
Known GenesCEACAM16
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287580
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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