A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237268



Internal ID22373834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:26171880..26179110hg38UCSC Ensembl
Outerchr16:26183201..26190431hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg384388
hg194388
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259705, nssv14259704, nssv14259215, nssv14259214, nssv14259216, nssv14259217
SamplesNA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237268
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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