A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222642



Internal ID22366657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11100556..11116820hg38UCSC Ensembl
Outerchr2:11240682..11256946hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266835, nssv14265784, nssv14266834, nssv14265783
SamplesNA19239, HG00731, HG00733, HG00513
Known GenesFLJ33534
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222642
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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