A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246763



Internal ID22376519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132324427..132395517hg38UCSC Ensembl
Outerchr10:134137931..134209021hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3810324
hg1910324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253783, nssv14253780, nssv14253000, nssv14253781, nssv14253782, nssv14253001, nssv14253779
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesLRRC27
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246763
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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