A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213583



Internal ID22360486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:103419094..103444570hg38UCSC Ensembl
Outerchr2:104035552..104061028hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265383, nssv14265382, nssv14265875, nssv14265386, nssv14265876, nssv14265384, nssv14265874, nssv14265873, nssv14265385
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)nsv3213583
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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