A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243374



Internal ID22375555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135409536..135418033hg38UCSC Ensembl
Outerchr9:138301382..138309879hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381850
hg191850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253221, nssv14253222
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243374
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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