A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253673



Internal ID22215959
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249382
Supporting Variants
SamplesHG00733
Known GenesTRAF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253673
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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