A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559646



Internal ID22428446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51247073..51247073hg38UCSC Ensembl
chr12:51640857..51640857hg19UCSC Ensembl
Cytoband12q13.13
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 Variantsnssv14363398, nssv14363397
SamplesNA19239, NA19240
Known GenesSMAGP
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)nsv3559646
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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