A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220292



Internal ID22365026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61422771..61426567hg38UCSC Ensembl
chr14:61889489..61893285hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383797
hg193797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14370236, nssv14370241, nssv14370238, nssv14370244, nssv14370237, nssv14370240, nssv14370243, nssv14370239, nssv14370242
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPRKCH
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220292
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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