A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3266n152



Internal ID22818969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68196178..68196632hg38UCSC Ensembl
chr16:68230081..68230535hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219940, nsv3212666
SamplesNA19239, NA19240
Known GenesNFATC3
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3266n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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