A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234521



Internal ID22373054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:29410408..29482881hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267461, nssv14266424, nssv14266423, nssv14266420, nssv14266425, nssv14267462, nssv14266422, nssv14266421, nssv14266426
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234521
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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