A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1969n152



Internal ID22817672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98562969..98570785hg38UCSC Ensembl
chr12:98956747..98964563hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387817
hg197817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3230158, nsv3527674
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PlatformBioNano Genomics
Illumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1969n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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