A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384578



Internal ID22320229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47779604..47789469hg38UCSC Ensembl
chr16:47813515..47823380hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg389866
hg199866
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197075
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384578
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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