A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4478n152



Internal ID22820181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10946189..10966641hg38UCSC Ensembl
chr2:11086315..11106767hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3820453
hg1920453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223180, nsv3219352
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4478n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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