A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6030n152



Internal ID22821733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77286845..77324559hg38UCSC Ensembl
chr3:77335996..77373710hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3837715
hg1937715
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221171, nsv3219671
SamplesHG00512, NA19238, HG00731, HG00513
Known GenesROBO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6030n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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