A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565905



Internal ID22434614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72345651..72345651hg38UCSC Ensembl
chr9:74960567..74960567hg19UCSC Ensembl
Cytoband9q21.13
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 Variantsnssv14346185
SamplesNA19239
Known Genes
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)nsv3565905
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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