A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9410n152



Internal ID22825113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142174862..142202547hg38UCSC Ensembl
chr8:143256223..143283908hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3827686
hg1927686
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3240054, nsv3236076
SamplesNA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00051, MIR4472-1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9410n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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