A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248096



Internal ID22376887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:123169122..123179105hg38UCSC Ensembl
Outerchr8:124181362..124191345hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381427
hg191427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280461, nssv14280463, nssv14280462
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248096
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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