A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242743



Internal ID22375367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:92704362..92706991hg38UCSC Ensembl
Outerchr11:92437528..92440157hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg381825
hg191825
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254357, nssv14254360, nssv14254359, nssv14254358, nssv14254355, nssv14254356, nssv14254353, nssv14254361, nssv14254354
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAT3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242743
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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