A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249810



Internal ID22377376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49753405..49766954hg38UCSC Ensembl
Outerchr14:50220123..50233672hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387420
hg197420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258149, nssv14258147, nssv14258144, nssv14258145, nssv14258150, nssv14258143, nssv14258142, nssv14258148, nssv14258146
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)nsv3249810
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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