A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1102n152



Internal ID22816805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127784938..127812677hg38UCSC Ensembl
chr10:129583202..129610941hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3827740
hg1927740
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3234499, nsv3242801
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1102n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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