A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233606



Internal ID22372803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:65316159..65326840hg38UCSC Ensembl
Outerchr16:65350062..65360743hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381810
hg191810
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259342, nssv14259344, nssv14259340, nssv14259343, nssv14259348, nssv14259346, nssv14259341, nssv14259345, nssv14259347
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00922
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233606
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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