A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551446



Internal ID22420357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17754009..17754009hg38UCSC Ensembl
chr22:18236775..18236775hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396857
SamplesNA19240
Known GenesBID
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551446
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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