A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524149



Internal ID22393578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41835231..41835231hg38UCSC Ensembl
chr22:42231235..42231235hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423783, nssv14395786, nssv14450946
SamplesNA19240, HG00733, HG00514
Known GenesSREBF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524149
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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