A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253272



Internal ID22254425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5837161..5873254hg38UCSC Ensembl
Outerchr11:5858391..5894484hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3836094
hg1936094
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226349
Supporting Variants
SamplesNA19238
Known GenesOR52E6, OR52E8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253272
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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