A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242133



Internal ID22375182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89324642..89343719hg38UCSC Ensembl
Outerchr15:89867873..89886950hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258866, nssv14258867
SamplesNA19238, NA19240
Known GenesMIR6766, POLG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242133
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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