A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396154



Internal ID22300069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29907437..29907437hg38UCSC Ensembl
chr22:30303426..30303426hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521637
Supporting Variants
SamplesNA19240
Known GenesMTMR3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14396154
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