A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421551



Internal ID22159672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1150101..1150101hg38UCSC Ensembl
chr20:1130744..1130744hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521426
Supporting Variants
SamplesHG00514
Known GenesPSMF1
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)nssv14421551
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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