A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560359



Internal ID22429156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60274682..60274682hg38UCSC Ensembl
chr14:60741400..60741400hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14370215, nssv14370214, nssv14370216
SamplesNA19238, NA19239, NA19240
Known GenesPPM1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560359
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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