A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247715



Internal ID22376784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:845823..957730hg38UCSC Ensembl
Outerchr16:895823..1007730hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg389904
hg199904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3086n152
Supporting Variantsnssv14260039, nssv14260041, nssv14260040
SamplesNA19238, HG00731, HG00733
Known GenesLMF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247715
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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