A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560149



Internal ID22428945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43837649..43837649hg38UCSC Ensembl
chr13:44411785..44411785hg19UCSC Ensembl
Cytoband13q14.11
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 Variantsnssv14369652, nssv14369653
SamplesNA19239, NA19240
Known GenesCCDC122
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)nsv3560149
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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