A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229333



Internal ID22371216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:121814016..121840604hg38UCSC Ensembl
Outerchr6:122135162..122161750hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381513
hg191513
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8081n152
Supporting Variantsnssv14277067, nssv14277064, nssv14277066, nssv14277068, nssv14277065
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229333
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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