A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249402



Internal ID22377264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32615085..32632946hg38UCSC Ensembl
Outerchr20:31202887..31220748hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268124, nssv14268123
SamplesHG00732, HG00733
Known GenesC20orf203
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249402
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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