A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241010



Internal ID22374847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48494778..48530341hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg388434
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266479, nssv14266482, nssv14266480, nssv14266481, nssv14266483, nssv14266484
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241010
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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