A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245380



Internal ID22376129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8555005..8579396hg38UCSC Ensembl
Outerchr16:8605007..8629398hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260124, nssv14260126, nssv14260127, nssv14260123, nssv14260125, nssv14260128, nssv14260129
SamplesHG00512, NA19238, NA19239, HG00731, HG00733, HG00513, HG00514
Known GenesTMEM114
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245380
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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