A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254473



Internal ID22131066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58818003..58850361hg38UCSC Ensembl
Outerchr11:58585476..58617834hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3832359
hg1932359
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219420
Supporting Variants
SamplesHG00513
Known GenesGLYATL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254473
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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