A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235901



Internal ID22373432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69159688..69162140hg38UCSC Ensembl
Outerchr8:70071923..70074375hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280392, nssv14280391, nssv14280393, nssv14280390
SamplesNA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235901
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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