A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7214n152



Internal ID22822917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16624289..16624342hg38UCSC Ensembl
chr5:16624398..16624451hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3204362, nsv3200795
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
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)dgv7214n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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