A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2633n152



Internal ID22818336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59975081..59975151hg38UCSC Ensembl
chr14:60441799..60441869hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3527926, nsv3283414, nsv3283998
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLRRC9
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)dgv2633n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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