A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243544



Internal ID22375603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28584913..28640022hg38UCSC Ensembl
Outerchr16:28596234..28651343hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813217
hg1913217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259732, nssv14259733, nssv14259731
SamplesNA19238, HG00513, HG00514
Known GenesCCDC101, SULT1A1, SULT1A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243544
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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