A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564222



Internal ID22432954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59804553..59804553hg38UCSC Ensembl
chr5:59100379..59100379hg19UCSC Ensembl
Cytoband5q12.1
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 Variantsnssv14322357
SamplesHG00732
Known GenesPDE4D
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)nsv3564222
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer