A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254482



Internal ID22131078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:89187296..89241602hg38UCSC Ensembl
Outerchr11:88920464..88974770hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3854307
hg1954307
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220810
Supporting Variants
SamplesHG00513
Known GenesTYR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254482
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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