A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234301



Internal ID22372994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9809749..9839479hg38UCSC Ensembl
Outerchr4_gl000193_random:77063..106793hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3875966
hg1975966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5434n152
Supporting Variantsnssv14267969, nssv14267967, nssv14268717, nssv14267968
SamplesNA19238, NA19239, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234301
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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