A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249509



Internal ID22377292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29478802..29486577hg38UCSC Ensembl
Outerchr16:29490123..29497898hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259743, nssv14259744
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249509
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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