A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249382



Internal ID22377258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36491115..36508919hg38UCSC Ensembl
Outerchr11:36512665..36530469hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253670, nssv14253674, nssv14253673, nssv14253676, nssv14253675, nssv14253671, nssv14253672, nssv14254142, nssv14254141
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTRAF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249382
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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