A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1544n152



Internal ID22817247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102877992..102886399hg38UCSC Ensembl
chr11:102748722..102757129hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg388408
hg198408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3227247, nsv3213361
SamplesHG00512, NA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1544n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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