A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248158



Internal ID22376900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4341675..4353650hg38UCSC Ensembl
Outerchr16:4391676..4403651hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381764
hg191764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260189, nssv14260191, nssv14260192, nssv14260190
SamplesHG00512, NA19239, HG00731, HG00513
Known GenesCORO7-PAM16, PAM16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248158
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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