A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247354



Internal ID22376689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1596986..1616776hg38UCSC Ensembl
Outerchr16:1646987..1666777hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260075, nssv14260074, nssv14260078, nssv14260077, nssv14260076, nssv14260073, nssv14260072
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesCRAMP1L, IFT140
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247354
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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