A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237412



Internal ID22373869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46785131..46797061hg38UCSC Ensembl
Outerchr20:45413770..45425700hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382123
hg192123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267250, nssv14267251, nssv14267249, nssv14267247, nssv14267244, nssv14267245, nssv14267246, nssv14267248, nssv14267243
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)nsv3237412
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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