A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243892



Internal ID22375704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48060560..48101049hg38UCSC Ensembl
Outerchr17:46137922..46178411hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381354
hg191354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261622, nssv14261623, nssv14261625, nssv14261628, nssv14261620, nssv14261621, nssv14261626, nssv14261624, nssv14261627
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCBX1, NFE2L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243892
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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