A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238830



Internal ID22374263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63424453..63454417hg38UCSC Ensembl
Outerchr20:62055806..62085770hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383273
hg193273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266998, nssv14266997, nssv14267000, nssv14266999, nssv14266996, nssv14267001, nssv14267002
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513, HG00514
Known GenesKCNQ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238830
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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