A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2802n152



Internal ID22818505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105741497..106767692hg38UCSC Ensembl
chr14:106207834..107175935hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381026196
hg19968102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228877, nsv3221532
SamplesNA19239, HG00513, HG00514
Known GenesADAM6, KIAA0125, LINC00221, LINC00226
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2802n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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