A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv57n152



Internal ID22815760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3458139..3520529hg38UCSC Ensembl
chr1:3374703..3437093hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3862391
hg1962391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221197, nsv3226764
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513
Known GenesARHGEF16, MEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv57n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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