A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234884



Internal ID22373145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53830898..53838262hg38UCSC Ensembl
Outerchr20:52447437..52454801hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267281, nssv14267287, nssv14267280, nssv14267285, nssv14267286, nssv14267284, nssv14267282, nssv14267283
SamplesHG00512, NA19238, 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)nsv3234884
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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