A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395786



Internal ID22297859
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 StatusS
Merged Variantsnsv3524149
Supporting Variants
SamplesNA19240
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)nssv14395786
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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