A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562130



Internal ID22430890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29907454..29907454hg38UCSC Ensembl
chr22:30303443..30303443hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304812, nssv14304811
SamplesNA19238, NA19240
Known GenesMTMR3
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)nsv3562130
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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