A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253876



Internal ID22144387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58036358..58058516hg38UCSC Ensembl
Outerchr11:57803830..57825988hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3822159
hg1922159
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222771
Supporting Variants
SamplesHG00514
Known GenesOR9Q1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253876
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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