A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253340



Internal ID22254456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58796933..58850361hg38UCSC Ensembl
Outerchr11:58564406..58617834hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3853429
hg1953429
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211723
Supporting Variants
SamplesNA19238
Known GenesGLYATL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253340
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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