A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285189



Internal ID22189666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145289786..145394078hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38104293
Variant TypeCNV duplication
Copy Number245
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199339
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285189
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