A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255068



Internal ID22295632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68624941..68648008hg38UCSC Ensembl
Outerchr11:68392409..68415476hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239306
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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