A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8280n152



Internal ID22823983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170166434..170189823hg38UCSC Ensembl
chr6:170481658..170505047hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3823390
hg1923390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214187, nsv3215360
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8280n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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