A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560360



Internal ID22429157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64452874..64452874hg38UCSC Ensembl
chr14:64919592..64919592hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14370329, nssv14370328
SamplesNA19239, NA19240
Known GenesMIR548AZ, MTHFD1
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)nsv3560360
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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