A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253284



Internal ID22263050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:10351619..10371692hg38UCSC Ensembl
Outerchr11:10373166..10393239hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3820074
hg1920074
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226142
Supporting Variants
SamplesNA19238
Known GenesCAND1.11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253284
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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