A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565332



Internal ID22434053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100087028..100087028hg38UCSC Ensembl
chr9:102849310..102849310hg19UCSC Ensembl
Cytoband9q31.1
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 Variantsnssv14349727, nssv14349728, nssv14349729
SamplesNA19238, NA19239, NA19240
Known GenesERP44
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)nsv3565332
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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