A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210742



Internal ID22358548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:189822550..189888452hg38UCSC Ensembl
Outerchr4:190743704..190809607hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg387267
hg197267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7068n152
Supporting Variantsnssv14273193, nssv14273194, nssv14273195, nssv14273192
SamplesHG00512, NA19238, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210742
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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