A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255026



Internal ID22216501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66370637..66405497hg38UCSC Ensembl
Outerchr11:66138108..66172968hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg382362
hg192362
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242474
Supporting Variants
SamplesHG00733
Known GenesSLC29A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255026
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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