A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215840



Internal ID22362036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:31821021..31827347hg38UCSC Ensembl
Outerchr2:32046090..32052416hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383355
hg193355
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266056, nssv14266058, nssv14266053, nssv14266055, nssv14266054, nssv14266061, nssv14266059, nssv14266060, nssv14266057
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215840
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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