A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254864



Internal ID22319368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102730227..102747135hg38UCSC Ensembl
Outerchr11:102600958..102617866hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247147
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254864
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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