A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553783



Internal ID22422657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17754046..17754046hg38UCSC Ensembl
chr22:18236812..18236812hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449133
SamplesHG00733
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)nsv3553783
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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