A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232059



Internal ID22372411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:365832..405612hg38UCSC Ensembl
Outerchr16:415832..455612hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259511, nssv14259509, nssv14259507, nssv14259506, nssv14259510, nssv14259508
SamplesHG00512, NA19238, NA19239, HG00732, HG00733, HG00513
Known GenesDECR2, LOC100134368, MRPL28, NME4, TMEM8A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232059
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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