A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4476n152



Internal ID22820179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10528531..10546650hg38UCSC Ensembl
chr2:10668657..10686776hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3818120
hg1918120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3227192, nsv3227781
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4476n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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