A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3185n152



Internal ID22818888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24851174..24851501hg38UCSC Ensembl
chr16:24862495..24862822hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214379, nsv3217333
SamplesHG00732, HG00514
Known GenesSLC5A11
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)dgv3185n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer