A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249820



Internal ID22377378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20349462..20365346hg38UCSC Ensembl
Outerchr20:20330106..20345990hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266461, nssv14266462, nssv14266463, nssv14266464
SamplesNA19239, NA19240, HG00733, HG00514
Known GenesC20orf26
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249820
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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