A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232006



Internal ID22372396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4322561..4353650hg38UCSC Ensembl
Outerchr16:4372562..4403651hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383257
hg193257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259963
SamplesHG00732
Known GenesCORO7-PAM16, GLIS2, PAM16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232006
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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