A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246678



Internal ID22376486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9809749..9837956hg38UCSC Ensembl
Outerchr4_gl000193_random:77063..105270hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg387701
hg197701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5434n152
Supporting Variantsnssv14268718, nssv14268719, nssv14268720
SamplesNA19239, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246678
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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