A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4789n152



Internal ID22820492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:125889619..125901237hg38UCSC Ensembl
chr2:126647196..126658814hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3811619
hg1911619
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223344, nsv3225854
SamplesHG00512, NA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4789n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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