A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559828



Internal ID22428624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102916909..102916909hg38UCSC Ensembl
chr12:103310687..103310687hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365545, nssv14365544
SamplesNA19238, NA19240
Known GenesPAH
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)nsv3559828
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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