A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562363



Internal ID22431117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51732659..51732659hg38UCSC Ensembl
chr20:50349198..50349198hg19UCSC Ensembl
Cytoband20q13.2
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 Variantsnssv14299504, nssv14299505
SamplesNA19239, NA19240
Known GenesATP9A
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)nsv3562363
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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