A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253535



Internal ID22199493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:4354280..4418331hg38UCSC Ensembl
Outerchr11:4375510..4439561hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3864052
hg1964052
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225182
Supporting Variants
SamplesHG00732
Known GenesOR52B4, TRIM21
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253535
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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