A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225181



Internal ID22368387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32364181..32381705hg38UCSC Ensembl
Outerchr2:32589249..32606773hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382157
hg192157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265737, nssv14266062
SamplesNA19238, HG00513
Known GenesBIRC6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225181
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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