A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554792



Internal ID22423646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:10743407..10743407hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382911
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396822, nssv14421750, nssv14450912
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3554792
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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