A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213846



Internal ID22360659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9730667..9777056hg38UCSC Ensembl
Outerchr2:9870796..9917185hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg386404
hg196404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264510, nssv14264508, nssv14264507, nssv14264512, nssv14264511, nssv14264509
SamplesNA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213846
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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