A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253287



Internal ID22144301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11785603..11811602hg38UCSC Ensembl
Outerchr11:11807150..11833149hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3826000
hg1926000
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227072
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253287
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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