A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254143



Internal ID22199705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119934414..119951207hg38UCSC Ensembl
Outerchr11:119805123..119821916hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240166
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254143
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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