A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227781



Internal ID22370169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10528531..10541529hg38UCSC Ensembl
Outerchr2:10668657..10681655hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4476n152
Supporting Variantsnssv14264534, nssv14264533, nssv14264532, nssv14264535
SamplesNA19238, HG00731, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227781
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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