A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234298



Internal ID22372992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131819207..131888064hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg385027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253455, nssv14253456, nssv14253457
SamplesHG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234298
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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