A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv699n152



Internal ID22816402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:384001..452983hg38UCSC Ensembl
chr10:429941..498923hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3868983
hg1968983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3218806, nsv3225155
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDIP2C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv699n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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