A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260190



Internal ID22133052
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248158
Supporting Variants
SamplesHG00513
Known GenesCORO7-PAM16, PAM16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260190
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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