A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3202n152



Internal ID22818905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30820515..30821957hg38UCSC Ensembl
chr16:30831836..30833278hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229859, nsv3215411
SamplesNA19238, NA19239, NA19240
Known Genes
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)dgv3202n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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