A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238150



Internal ID22374078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:38474632..38632372hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3810194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv882n152
Supporting Variantsnssv14280778, nssv14280779, nssv14280777
SamplesNA19238, NA19239, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238150
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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