A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239685



Internal ID22374490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88347943..88375907hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38645
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260848, nssv14260845, nssv14260847, nssv14260846, nssv14260849
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239685
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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