A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253896



Internal ID22307989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47428566..47438836hg38UCSC Ensembl
Outerchr11:47450117..47460387hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244955
Supporting Variants
SamplesNA19240
Known GenesRAPSN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253896
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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