A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304811



Internal ID22258554
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562130
Supporting Variants
SamplesNA19238
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)nssv14304811
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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