A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254868



Internal ID22262928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:112355553..112364373hg38UCSC Ensembl
Outerchr11:112226276..112235096hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3854102
hg1954102
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232269
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254868
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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