A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv762n152



Internal ID22816465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5363730..5384354hg38UCSC Ensembl
chr10:5405693..5426317hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3820625
hg1920625
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3247674, nsv3247542
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesUCN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv762n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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