A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247324



Internal ID22376685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:108106187..108137786hg38UCSC Ensembl
Outerchr8:109118415..109150014hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281054, nssv14281053
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247324
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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