A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565116



Internal ID22433838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67016252..67016252hg38UCSC Ensembl
chr7:66481239..66481239hg19UCSC Ensembl
Cytoband7q11.21
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 Variantsnssv14335768, nssv14335767
SamplesHG00732, HG00513
Known GenesTYW1
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)nsv3565116
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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