A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249063



Internal ID22377166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45891370..45930397hg38UCSC Ensembl
Outerchr21:47311284..47350311hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383463
hg193463
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267163, nssv14267165, nssv14267162, nssv14268674, nssv14268672, nssv14268673, nssv14267164
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesPCBP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249063
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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