A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564360



Internal ID22433091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34298480..34298480hg38UCSC Ensembl
chr6:34266257..34266257hg19UCSC Ensembl
Cytoband6p21.31
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 Variantsnssv14324900, nssv14324899
SamplesNA19238, NA19239
Known GenesNUDT3, RPS10-NUDT3
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)nsv3564360
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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