A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218492



Internal ID22363815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68515171..68643990hg38UCSC Ensembl
chr11:68282639..68411458hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38128820
hg19128820
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14360609, nssv14360607, nssv14360611, nssv14360610, nssv14360608, nssv14360612, nssv14360613
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPPP6R3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218492
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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