A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246234



Internal ID22376359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141060431..141063863hg38UCSC Ensembl
Outerchr8:142070530..142073962hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387201
hg197201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279325
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246234
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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