A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217441



Internal ID22363094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157907501..157924505hg38UCSC Ensembl
Outerchr2:158764013..158781017hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383657
hg193657
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265569, nssv14265571, nssv14265573, nssv14265576, nssv14265574, nssv14265577, nssv14265575, nssv14265572, nssv14265570
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)nsv3217441
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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